VARIANTS | Natural Ligand DB

Variants on interaction residues (Swissprot Humsavar, NCBI Clinvar and Tommo 4.7kJPN)

KEGG pathway		Name
hsa00010		Glycolysis / Gluconeogenesis
dbSNP		Type	Disease name
	-	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
	-	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	-	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	-	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	rs1018955701	-	-
	rs1041969	Polymorphism	-
	rs104894009	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs104894015	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
	rs1126673	-	-
	rs1131691416	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs115638369	-	-
	rs121909534	Pathogenic	HNSHA due to aldolase A deficiency [MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918194	Pathogenic	Glycogen storage disease, type VII [MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008]
	rs121964925	Disease	Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
	rs121964988	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1229984	Polymorphism	-
	rs1256830271	-	-
	rs1280636156	-	-
	rs1286804191	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs1348837644	-	-
	rs1360415315	Pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]; not provided [MedGen:CN517202]
	rs1375656631	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs137852530	Polymorphism	-
	rs137852533	Disease	Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
	rs137852539	Pathogenic	Phosphoglycerate kinase 1 deficiency [MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713]
	rs137853258	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs137853582	-	-
	rs137853582	Pathogenic	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
	rs138887023	-	-
	rs140960775	-	-
	rs141623265	-	-
	rs143485300	-	-
	rs1441649062	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs144723656	Pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]; not provided [MedGen:CN517202]
	rs145078268	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008]
	rs146153216	-	-
	rs146556418	-	-
	rs147065275	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1471862905	-	-
	rs148311934	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs149408684	-	-
	rs150939574	-	-
	rs1555933963	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243]
	rs17853396	Polymorphism	-
	rs184074326	-	-
	rs184618766	-	-
	rs193922272	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922281	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922282	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922282	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs193922290	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922297	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922310	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922311	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922312	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922322	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922327	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922328	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs199624420	-	-
	rs200000745	-	-
	rs200244541	-	-
	rs200544560	-	-
	rs200556774	-	-
	rs200969445	Pathogenic	Oligosynaptic infertility [MedGen:C0403810,OMIM:258150,SNOMED CT:236803007]
	rs201321507	-	-
	rs201745983	-	-
	rs201934016	-	-
	rs202226446	-	-
	rs2066702	Polymorphism	-
	rs2458502	-	-
	rs28359542	Polymorphism	-
	rs28383586	Polymorphism	-
	rs284797	-	-
	rs28730628	Polymorphism	-
	rs35229514	-	-
	rs35385902	Polymorphism	-
	rs367861880	-	-
	rs371767574	-	-
	rs371807385	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs374118874	-	-
	rs376093116	-	-
	rs376297762	-	-
	rs376690171	-	-
	rs377699817	-	-
	rs398122379	Disease	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs539728659	-	-
	rs541509845	-	-
	rs545372800	-	-
	rs547918064	-	-
	rs555935217	-	-
	rs56251804	-	-
	rs566453434	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs671	Polymorphism	-
	rs74451421	-	-
	rs747209153	-	-
	rs747837917	-	-
	rs748408705	-	-
	rs750389182	-	-
	rs750660594	-	-
	rs751972865	Disease	Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
	rs752807581	-	-
	rs753407393	-	-
	rs754185312	-	-
	rs754994587	-	-
	rs755461904	-	-
	rs756704521	-	-
	rs757985056	-	-
	rs758609113	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs758737171	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
	rs75967634	-	-
	rs759933654	-	-
	rs760185950	-	-
	rs760379773	-	-
	rs760971491	-	-
	rs762200045	-	-
	rs763392896	-	-
	rs767632371	-	-
	rs768361068	-	-
	rs769268803	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769512330	-	-
	rs769724893	Polymorphism	-
	rs769763635	-	-
	rs769879612	-	-
	rs770331582	-	-
	rs771107373	-	-
	rs773503933	-	-
	rs775111586	-	-
	rs775156542	-	-
	rs776400068	-	-
	rs777019739	-	-
	rs777954556	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
	rs779006912	-	-
	rs779314973	-	-
	rs779828856	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs80356655	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs863224150	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243]; not provided [MedGen:CN517202]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs919480583	-	-
hsa00020		Citrate cycle (TCA cycle)
dbSNP		Type	Disease name
	-	Pathogenic	Mitochondrial complex II deficiency [MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208]; Paragangliomas 5 [MedGen:C3279992,OMIM:614165]
	-	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs1040177874	-	-
	rs104894302	Likely pathogenic	Cowden syndrome 3 [MedGen:C3554516]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Paraganglioma and gastric stromal sarcoma [MedGen:C1847319,OMIM:606864,Orphanet:ORPHA97286]; Paragangliomas 1 [MedGen:C1868633,OMIM:168000]; Paragangliomas 1 [MedGen:C1868633,OMIM:168000]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]
	rs1057519736	Polymorphism	-
	rs1057519736	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]
	rs1057519906	Polymorphism	-
	rs1057519906	Disease	Glioma (GLM) [MIM:137800]
	rs1057519906	Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
	rs1060503769	Pathogenic	Paragangliomas 1 [MedGen:C1868633,OMIM:168000]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]
	rs1200905118	-	-
	rs1213395414	-	-
	rs121913499	Unclassified	Colorectal cancer
	rs121913499	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Astrocytoma [Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs121913500	Unclassified	A glioma sample
	rs121913500	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Astrocytoma [Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Glioblastoma multiforme, somatic [MedGen:C4016231]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Oligodendroglioma [MeSH:D009837,MedGen:C0751396,SNOMED CT:443936004]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs121913502	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; D-2-hydroxyglutaric aciduria 2 [MedGen:C3150909,OMIM:613657]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; not provided [MedGen:CN517202]
	rs121913502	Disease	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
	rs121913503	Disease	Glioma (GLM) [MIM:137800]
	rs121913503	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
	rs121913503	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
	rs121964988	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1233115152	-	-
	rs1250941205	-	-
	rs1252881714	-	-
	rs1256830271	-	-
	rs1265220446	-	-
	rs137853258	Disease	Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
	rs141728876	-	-
	rs148890709	-	-
	rs148943214	-	-
	rs1555933963	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243]
	rs200969445	Pathogenic	Oligosynaptic infertility [MedGen:C0403810,OMIM:258150,SNOMED CT:236803007]
	rs267606870	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
	rs267606870	Disease	D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
	rs267607098	Pathogenic	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) [MedGen:C3151476,OMIM:245400,Orphanet:ORPHA17]
	rs267607099	Pathogenic	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) [MedGen:C3151476,OMIM:245400,Orphanet:ORPHA17]
	rs28359542	Polymorphism	-
	rs28383586	Polymorphism	-
	rs28940589	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
	rs28940590	Disease	Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
	rs35494829	-	-
	rs371807385	-	-
	rs376297762	-	-
	rs377518755	-	-
	rs532952188	-	-
	rs537907558	-	-
	rs564792232	-	-
	rs747837917	-	-
	rs753407393	-	-
	rs753617532	-	-
	rs755461904	-	-
	rs759846791	-	-
	rs770028533	-	-
	rs776400068	-	-
	rs781739244	-	-
	rs781834702	-	-
	rs781837455	-	-
	rs782010539	-	-
	rs782308462	Disease	Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
	rs782487022	-	-
	rs786205145	Likely pathogenic	Carney triad [MedGen:C1858592,OMIM:604287,Orphanet:ORPHA139411]
	rs80338847	Pathogenic	Hereditary Paraganglioma-Pheochromocytoma Syndromes [MedGen:C1708353,Orphanet:ORPHA29072]; Paragangliomas 1 [MedGen:C1868633,OMIM:168000]
	rs863224150	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243]; not provided [MedGen:CN517202]
	rs864309499	Likely pathogenic	Infantile cerebellar-retinal degeneration [MedGen:C3281192,OMIM:614559,Orphanet:ORPHA313850]
hsa00030		Pentose phosphate pathway
dbSNP		Type	Disease name
	-	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs121909534	Pathogenic	HNSHA due to aldolase A deficiency [MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003]
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918194	Pathogenic	Glycogen storage disease, type VII [MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008]
	rs1250029517	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
	rs1280636156	-	-
	rs1378312777	-	-
	rs137852316	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852325	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852329	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852349	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs137852543	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137852545	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137853582	-	-
	rs137853582	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
	rs138207257	Disease	Hyperoxaluria primary 3 (HP3) [MIM:613616]
	rs139382538	Disease	Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
	rs143485300	-	-
	rs145078268	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008]
	rs1556381145	-	-
	rs1557230580	-	-
	rs184658792	-	-
	rs189919790	-	-
	rs200529020	Likely pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs200544560	-	-
	rs374714195	-	-
	rs376093116	-	-
	rs376690171	-	-
	rs387906468	Pathogenic, other	Anemia, nonspherocytic hemolytic, due to G6PD deficiency [MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026]; G6PD PUERTO LIMON [na]
	rs541509845	-	-
	rs555935217	-	-
	rs566453434	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs746419489	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs748408705	-	-
	rs749994897	-	-
	rs752807581	-	-
	rs754049561	-	-
	rs756489804	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs756704521	-	-
	rs758609113	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs760379773	-	-
	rs762200045	-	-
	rs764224799	-	-
	rs76645461	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs767405535	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs769512330	-	-
	rs772424772	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs78160297	-	-
	rs782314561	-	-
	rs782412869	-	-
	rs782453942	-	-
	rs78478128	Disease	Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
	rs796052088	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs80338675	Disease	ARTS syndrome (ARTS) [MIM:301835]
	rs869025593	Pathogenic	Arts syndrome [MedGen:C0796028,OMIM:301835,Orphanet:ORPHA1187]; Deafness, X-linked 1 [MedGen:C1844677,OMIM:304500]
hsa00040		Pentose and glucuronate interconversions
dbSNP		Type	Disease name
	-	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
	-	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	rs11666105	-	-
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs1226928039	-	-
	rs1239594775	-	-
	rs1294400653	-	-
	rs1348837644	-	-
	rs138887023	-	-
	rs140112768	-	-
	rs1438253227	-	-
	rs146556418	-	-
	rs200000745	-	-
	rs200908381	-	-
	rs201321507	-	-
	rs201835306	-	-
	rs2234622	Polymorphism	-
	rs2234625	-	-
	rs2270941	-	-
	rs2458502	-	-
	rs2959896	-	-
	rs370245703	-	-
	rs370312954	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs372696285	-	-
	rs372885680	-	-
	rs5054	Polymorphism	-
	rs5056	Polymorphism	-
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs559792550	-	-
	rs749485571	-	-
	rs753830206	-	-
	rs755264844	-	-
	rs756117252	-	-
	rs756827825	-	-
	rs758625590	-	-
	rs762922297	-	-
	rs765892707	-	-
	rs771427619	-	-
	rs772424772	-	-
	rs772620790	-	-
	rs773503933	-	-
	rs773593573	-	-
	rs773802985	-	-
	rs775137066	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs79233786	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs865845501	-	-
hsa00051		Fructose and mannose metabolism
dbSNP		Type	Disease name
	-	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs104893643	Disease	Fructosuria (FRUCT) [MIM:229800]
	rs104893644	Disease	Fructosuria (FRUCT) [MIM:229800]
	rs1063554	-	-
	rs121909533	Pathogenic	HNSHA due to aldolase A deficiency [MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003]
	rs121909534	Pathogenic	HNSHA due to aldolase A deficiency [MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003]
	rs121918189	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918190	Pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]
	rs121918194	Pathogenic	Glycogen storage disease, type VII [MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008]
	rs1226884383	-	-
	rs1280636156	-	-
	rs1337350024	-	-
	rs1375656631	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs137853582	-	-
	rs137853582	Pathogenic	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
	rs1379500249	-	-
	rs138367050	-	-
	rs139620518	-	-
	rs139948811	-	-
	rs139998516	-	-
	rs143026820	-	-
	rs143485300	-	-
	rs1438253227	-	-
	rs1441649062	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs145078268	Likely pathogenic	Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008]
	rs146768602	-	-
	rs148239543	-	-
	rs148311934	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs148627840	-	-
	rs150279875	-	-
	rs181651478	-	-
	rs190292776	-	-
	rs193922297	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922303	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922312	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922322	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922327	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922328	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs199878471	-	-
	rs200544560	-	-
	rs201037118	-	-
	rs201998835	-	-
	rs2959896	-	-
	rs367815523	-	-
	rs376093116	-	-
	rs376690171	-	-
	rs398122379	Disease	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs541509845	-	-
	rs554595347	-	-
	rs555935217	-	-
	rs562642551	-	-
	rs566453434	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs747367976	-	-
	rs748408705	-	-
	rs750714549	-	-
	rs751012777	-	-
	rs752807581	-	-
	rs754185312	-	-
	rs754994587	-	-
	rs755264844	-	-
	rs756704521	-	-
	rs758609113	Pathogenic/Likely pathogenic	Fructose-biphosphatase deficiency [MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005]; not provided [MedGen:CN517202]
	rs758816952	-	-
	rs760068551	-	-
	rs760379773	-	-
	rs760807537	-	-
	rs762200045	-	-
	rs769268803	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769512330	-	-
	rs771553926	-	-
	rs775137066	-	-
	rs775924004	-	-
	rs779828856	-	-
	rs780715532	-	-
	rs781078287	-	-
	rs781110394	-	-
	rs80356655	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs943355847	-	-
	rs992781636	-	-
hsa00052		Galactose metabolism
dbSNP		Type	Disease name
	-	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	-	Disease	Galactosemia II (GALCT2) [MIM:230200]
	-	Disease	GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
	-	Disease	GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
	-	Disease	GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
	-	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	-	Disease	Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
	-	Disease	Fabry disease (FD) [MIM:301500]
	-	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001]; not provided [MedGen:CN517202]
	-	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs104894009	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs104894577	Pathogenic	Deficiency of galactokinase [MedGen:C0268155,OMIM:230200,Orphanet:ORPHA79237,SNOMED CT:124302001]
	rs104894827	Disease	Fabry disease (FD) [MIM:301500]
	rs104894832	Disease	Fabry disease (FD) [MIM:301500]
	rs104894835	Disease	Fabry disease (FD) [MIM:301500]
	rs104894840	Disease	Fabry disease (FD) [MIM:301500]
	rs104894841	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001]; not provided [MedGen:CN517202]
	rs104894844	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001]
	rs104894845	Disease	Fabry disease (FD) [MIM:301500]
	rs1057516600	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs1057521047	Disease	Fabry disease (FD) [MIM:301500]
	rs111033648	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033652	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033669	-	-
	rs111033669	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033715	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033720	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033725	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006]; not provided [MedGen:CN517202]
	rs111033800	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033802	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033806	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006]
	rs111033808	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033809	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033810	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033812	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033814	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033815	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033828	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033832	Disease	Galactosemia (GALCT) [MIM:230400]
	rs111033844	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006]
	rs1131691416	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs113173389	Disease	Fabry disease (FD) [MIM:301500]
	rs115413295	-	-
	rs121907937	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs121908047	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
	rs121918194	Pathogenic	Glycogen storage disease, type VII [MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008]
	rs1280636156	-	-
	rs1286804191	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs1360415315	Pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]; not provided [MedGen:CN517202]
	rs1375656631	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs137853860	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
	rs137853861	-	-
	rs137853861	Disease	Epimerase-deficiency galactosemia (EDG) [MIM:230350]
	rs140826989	Pathogenic/Likely pathogenic	Glycogen storage disease, type II [MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002]; not provided [MedGen:CN517202]
	rs141533320	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs142481170	-	-
	rs142752477	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs143485300	-	-
	rs1441649062	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs144723656	Pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]; not provided [MedGen:CN517202]
	rs148311934	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs1555987101	Pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001]
	rs1800299	Polymorphism	-
	rs193922272	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922281	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922282	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922282	Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
	rs193922290	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922297	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922310	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922311	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs193922312	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922319	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922322	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922327	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs193922328	Likely pathogenic	Maturity-onset diabetes of the young, type 2 [MedGen:C1841962,OMIM:125851]
	rs200544560	-	-
	rs28935487	Disease	Fabry disease (FD) [MIM:301500]
	rs28935491	Disease	Fabry disease (FD) [MIM:301500]
	rs28935492	Disease	Fabry disease (FD) [MIM:301500]
	rs28940868	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs367543259	Disease	Galactosemia (GALCT) [MIM:230400]
	rs368438393	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs371517491	-	-
	rs371517491	Likely pathogenic	Deficiency of galactokinase [MedGen:C0268155,OMIM:230200,Orphanet:ORPHA79237,SNOMED CT:124302001]
	rs375310352	-	-
	rs375690568	Disease	Galactosemia II (GALCT2) [MIM:230200]
	rs376663785	Pathogenic/Likely pathogenic	GM1 gangliosidosis [MedGen:C0085131,Orphanet:ORPHA354]; GM1 gangliosidosis type 2 [MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002]; Gangliosidosis GM1 type 3 [MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Infantile GM1 gangliosidosis [MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007]; Infantile GM1 gangliosidosis [MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007]; Mucopolysaccharidosis, MPS-IV-B [MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004]; Mucopolysaccharidosis, MPS-IV-B [MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004]; not provided [MedGen:CN517202]
	rs377544304	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs398122379	Disease	Hexokinase deficiency (HK deficiency) [MIM:235700]
	rs398123174	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs5054	Polymorphism	-
	rs5056	Polymorphism	-
	rs533469192	-	-
	rs549029029	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs72555362	Pathogenic	Mucopolysaccharidosis, MPS-IV-B [MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004]
	rs72555364	Pathogenic	Mucopolysaccharidosis, MPS-IV-B [MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004]
	rs727503942	-	-
	rs727505292	Unclassified	Fabry disease (FD) [MIM:301500]
	rs730880451	Disease	Fabry disease (FD) [MIM:301500]
	rs748225017	-	-
	rs75391579	Disease	Galactosemia (GALCT) [MIM:230400]
	rs754185312	-	-
	rs754967473	-	-
	rs754967473	Disease	Galactosemia II (GALCT2) [MIM:230200]
	rs754994587	-	-
	rs757111744	-	-
	rs757111744	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs758737171	Disease	Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]
	rs764670084	-	-
	rs764670084	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs768722066	-	-
	rs769268803	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs769512330	-	-
	rs772883420	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs773416476	Polymorphism	-
	rs775137066	-	-
	rs778418246	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs779828856	-	-
	rs780715532	-	-
	rs781110394	-	-
	rs786204720	Disease	Glycogen storage disease 2 (GSD2) [MIM:232300]
	rs797044774	Disease	Fabry disease (FD) [MIM:301500]
	rs80356655	Disease	Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
	rs869312136	Unclassified	Fabry disease (FD) [MIM:301500]
	rs869312137	Unclassified	Fabry disease (FD) [MIM:301500]
	rs869312138	Disease	Fabry disease (FD) [MIM:301500]
	rs869312153	Unclassified	Fabry disease (FD) [MIM:301500]
	rs869312159	Unclassified	Fabry disease (FD) [MIM:301500]
	rs869312160	Disease	Fabry disease (FD) [MIM:301500]
	rs869312161	Unclassified	Fabry disease (FD) [MIM:301500]
	rs869312163	Disease	Fabry disease (FD) [MIM:301500]
	rs869312214	Disease	Fabry disease (FD) [MIM:301500]
	rs869312254	Disease	Fabry disease (FD) [MIM:301500]
	rs869312256	Disease	Fabry disease (FD) [MIM:301500]
	rs869312270	Disease	Fabry disease (FD) [MIM:301500]
	rs869312318	Disease	Fabry disease (FD) [MIM:301500]
	rs869312393	Disease	Fabry disease (FD) [MIM:301500]
	rs869312396	Likely pathogenic	Fabry disease [Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001]
	rs869312399	Disease	Fabry disease (FD) [MIM:301500]
	rs869312407	Disease	Fabry disease (FD) [MIM:301500]
	rs886041315	Disease	Fabry disease (FD) [MIM:301500]
	rs886044845	Disease	Fabry disease (FD) [MIM:301500]
	rs981970282	-	-
hsa00053		Ascorbate and aldarate metabolism
dbSNP		Type	Disease name
	rs11509436	Polymorphism	-
	rs11509438	Polymorphism	-
	rs11509439	Polymorphism	-
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs1239594775	-	-
	rs1292504288	-	-
	rs1348837644	-	-
	rs138887023	-	-
	rs1454273149	-	-
	rs146556418	-	-
	rs148563375	-	-
	rs151151350	-	-
	rs200000745	-	-
	rs200602157	-	-
	rs201321507	-	-
	rs201522765	-	-
	rs201835306	-	-
	rs2458502	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs61755740	-	-
	rs757707616	-	-
	rs762922297	-	-
	rs773503933	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
hsa00061		Fatty acid biosynthesis
dbSNP		Type	Disease name
	rs1018160528	-	-
	rs113931914	Polymorphism	-
	rs1357271377	Unclassified	A colorectal cancer sample
	rs139276176	-	-
	rs144457204	-	-
	rs1464624373	-	-
	rs148840593	-	-
	rs149224679	-	-
	rs17848945	-	-
	rs200775885	-	-
	rs200840955	-	-
	rs200842352	-	-
	rs201182683	-	-
	rs201551371	-	-
	rs368171697	-	-
	rs370433029	-	-
	rs45489599	-	-
	rs536230471	-	-
	rs539939995	-	-
	rs546995952	-	-
	rs549257982	-	-
	rs557050126	-	-
	rs748930040	-	-
	rs750541652	-	-
	rs752767411	-	-
	rs753704338	-	-
	rs755372392	-	-
	rs755971315	-	-
	rs756482744	-	-
	rs758221850	-	-
	rs758552144	-	-
	rs761208637	-	-
	rs766712508	-	-
	rs766955776	-	-
	rs767347856	-	-
	rs769948189	-	-
	rs775705403	-	-
	rs80133417	-	-
	rs887438250	-	-
	rs9890362	-	-
hsa00062		Fatty acid elongation
dbSNP		Type	Disease name
	-	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057519286	Pathogenic	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities [MedGen:C4310634,OMIM:617282]
	rs112441786	-	-
	rs1128400	-	-
	rs11544658	Polymorphism	-
	rs120074140	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074141	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074145	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs1202368985	-	-
	rs1245431558	-	-
	rs1256975692	-	-
	rs1355672978	-	-
	rs137852695	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Neuronal ceroid lipofuscinosis [MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007]; not provided [MedGen:CN517202]
	rs137852696	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs137852697	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs137852698	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs137852700	-	-
	rs137852700	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; History of neurodevelopmental disorder [MedGen:C2711754]; Neuronal Ceroid-Lipofuscinosis, Recessive [MedGen:CN239323]; Neuronal ceroid lipofuscinosis [MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007]; not provided [MedGen:CN517202]
	rs137852702	Pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs140387106	-	-
	rs144457204	-	-
	rs147168294	-	-
	rs148412181	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs149033118	-	-
	rs199695749	-	-
	rs200908381	-	-
	rs202015012	-	-
	rs202093592	-	-
	rs370245703	-	-
	rs370433029	-	-
	rs371834662	-	-
	rs375253960	-	-
	rs386833626	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833627	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833631	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833647	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833648	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833649	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833650	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs386833654	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833655	-	-
	rs386833655	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs386833656	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833657	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833658	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833661	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833662	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833663	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833665	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs386833666	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833668	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833669	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs386833670	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs532190594	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs545752791	-	-
	rs556081405	-	-
	rs56069624	-	-
	rs566644923	-	-
	rs74428123	-	-
	rs748303093	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs749485571	-	-
	rs753816946	-	-
	rs756168037	-	-
	rs759218713	Disease	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
	rs763463911	-	-
	rs766961054	-	-
	rs768550964	-	-
	rs772087249	-	-
	rs772780687	-	-
	rs774809147	-	-
	rs776965057	-	-
	rs779634821	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs796052925	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
	rs80133417	-	-
	rs866346652	-	-
	rs878853322	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs878853323	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs878853324	Likely pathogenic	Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs887438250	-	-
hsa00071		Fatty acid degradation
dbSNP		Type	Disease name
	-	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	-	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	rs1041969	Polymorphism	-
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057516564	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs1057517492	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs1057517517	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs1126673	-	-
	rs1135640	-	-
	rs115638369	-	-
	rs118204090	Pathogenic	Pseudoneonatal adrenoleukodystrophy [MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971]
	rs118204091	Pathogenic	Pseudoneonatal adrenoleukodystrophy [MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971]
	rs118204092	Pathogenic	Pseudoneonatal adrenoleukodystrophy [MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971]
	rs120074140	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074141	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074145	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs1202368985	-	-
	rs121434275	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434278	-	-
	rs121434278	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434279	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434281	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434283	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs121918528	Likely pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs1229984	Polymorphism	-
	rs1256975692	-	-
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs1401737158	-	-
	rs145712373	-	-
	rs1462472677	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs1466072211	-	-
	rs1469108369	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]
	rs1471862905	-	-
	rs149408684	-	-
	rs150321966	Pathogenic/Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]; not provided [MedGen:CN517202]
	rs1553169771	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]
	rs1553170005	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]
	rs1799821	-	-
	rs1799822	-	-
	rs192275019	-	-
	rs199695749	-	-
	rs201865375	-	-
	rs201865375	Pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs201934016	-	-
	rs201996784	-	-
	rs202015012	-	-
	rs2066702	Polymorphism	-
	rs2229291	-	-
	rs28730628	Polymorphism	-
	rs28936674	-	-
	rs28936674	Likely pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]
	rs35385902	Polymorphism	-
	rs367861880	-	-
	rs367902441	-	-
	rs371582393	Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs371834662	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs3744032	-	-
	rs375032130	Pathogenic/Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]; not provided [MedGen:CN517202]
	rs377699817	-	-
	rs532190594	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs547918064	-	-
	rs56251804	-	-
	rs574370650	-	-
	rs74315293	-	-
	rs74315293	Pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs74315294	-	-
	rs74315294	Pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]; Encephalopathy, acute, infection-induced, 4, susceptibility to [MedGen:C3280160,OMIM:614212,Orphanet:ORPHA263524]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Rhabdomyolysis [Human Phenotype Ontology:HP:0003201,MedGen:C0035410]; not provided [MedGen:CN517202]
	rs74315295	-	-
	rs74315295	Likely pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs74315300	Pathogenic	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs74428123	-	-
	rs74451421	-	-
	rs745423719	-	-
	rs747209153	-	-
	rs748303093	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs750389182	-	-
	rs751557097	-	-
	rs752737849	-	-
	rs753816946	-	-
	rs754386565	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs756168037	-	-
	rs756326862	-	-
	rs756931329	Pathogenic/Likely pathogenic	Carnitine palmitoyltransferase II deficiency [MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005]; Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]
	rs758723288	Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs75967634	-	-
	rs761438840	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile [MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305]; Carnitine palmitoyltransferase II deficiency, lethal neonatal [MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308]; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302]
	rs763392896	-	-
	rs769763635	-	-
	rs772087249	-	-
	rs773503933	-	-
	rs773966429	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs875989867	Pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
hsa00072		Synthesis and degradation of ketone bodies
dbSNP		Type	Disease name
	-	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	-	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs1014048269	-	-
	rs120074141	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs121909301	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	rs121964997	Pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]; not provided [MedGen:CN517202]
	rs1265872256	-	-
	rs1289541397	-	-
	rs1327401976	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	rs1357942068	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs137852640	Pathogenic	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701]
	rs1467902610	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs1553132209	Pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs199587895	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs200189529	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs200955062	-	-
	rs202015012	-	-
	rs368688262	-	-
	rs371834662	-	-
	rs727503963	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs748303093	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs748337518	-	-
	rs753816946	-	-
	rs755255464	-	-
	rs760106433	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs764039230	-	-
	rs765198174	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs770225915	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
hsa00100		Steroid biosynthesis
dbSNP		Type	Disease name
	-	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	-	Pathogenic	HYPOTRICHOSIS 14 [MedGen:CN258053,OMIM:618275]
	rs1202368985	-	-
	rs137853096	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency [MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007]; Bifunctional peroxisomal enzyme deficiency [MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007]; Perrault syndrome [MedGen:C0685838,Orphanet:ORPHA2855,SNOMED CT:93466004]; not provided [MedGen:CN517202]
	rs138781417	-	-
	rs139230476	-	-
	rs144457204	-	-
	rs17134592	-	-
	rs200217031	-	-
	rs200908381	-	-
	rs201022112	-	-
	rs370245703	-	-
	rs370433029	-	-
	rs371623501	-	-
	rs376669118	-	-
	rs4731	Polymorphism	-
	rs570650527	-	-
	rs746780985	-	-
	rs749461746	-	-
	rs749485571	-	-
	rs751451775	-	-
	rs754529217	-	-
	rs764164796	-	-
	rs768550964	-	-
	rs772780687	-	-
	rs778046889	-	-
	rs779490029	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs782421321	-	-
	rs80133417	-	-
	rs864622780	Disease	Cataract 44 (CTRCT44) [MIM:616509]
	rs887438250	-	-
hsa00120		Primary bile acid biosynthesis
dbSNP		Type	Disease name
	-	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057909	Polymorphism	-
	rs1057910	Polymorphism	-
	rs112441786	-	-
	rs117111102	-	-
	rs1202368985	-	-
	rs12414460	-	-
	rs1363857729	-	-
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs140387106	-	-
	rs141489852	-	-
	rs147168294	-	-
	rs1486164573	-	-
	rs149033118	-	-
	rs1799853	Polymorphism	-
	rs200346442	-	-
	rs200569884	-	-
	rs200908381	-	-
	rs200965026	-	-
	rs201296209	-	-
	rs202093592	-	-
	rs2296681	-	-
	rs28371686	Polymorphism	-
	rs370245703	-	-
	rs375253960	-	-
	rs4986893	-	-
	rs543931018	-	-
	rs545752791	-	-
	rs556081405	-	-
	rs56165452	Polymorphism	-
	rs566644923	-	-
	rs72552267	-	-
	rs72558191	Pathogenic	Warfarin response [MedGen:C0750384,OMIM:122700]
	rs72558192	-	-
	rs74428123	-	-
	rs749485571	-	-
	rs753270728	-	-
	rs763463911	-	-
	rs763625282	-	-
	rs764272389	-	-
	rs765456449	-	-
	rs774997677	-	-
	rs776908257	-	-
	rs776965057	-	-
	rs777237591	-	-
	rs779634821	-	-
	rs781200594	-	-
	rs781583846	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs79500998	-	-
	rs866346652	-	-
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs889353794	-	-
hsa00130		Ubiquinone and other terpenoid-quinone biosynthesis
dbSNP		Type	Disease name
	-	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	rs118203916	Pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs137852865	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	rs149180825	-	-
	rs181309650	-	-
	rs367674632	Pathogenic	4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency [MedGen:C2931042,OMIM:140350,Orphanet:ORPHA2118]; 4-Hydroxyphenylpyruvate dioxygenase deficiency [MedGen:C0268623,OMIM:276710,Orphanet:ORPHA69723,SNOMED CT:413356003]; 4-Hydroxyphenylpyruvate dioxygenase deficiency [MedGen:C0268623,OMIM:276710,Orphanet:ORPHA69723,SNOMED CT:413356003]
	rs761817519	Likely pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs768158086	-	-
	rs984792300	-	-
hsa00140		Steroid hormone biosynthesis
dbSNP		Type	Disease name
	-	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	-	Unclassified	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	-	Pathogenic	Glaucoma 3, primary congenital, A [MedGen:C1856439,OMIM:231300]
	-	Disease	46,XY sex reversal 8 (SRXY8) [MIM:614279]
	-	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	rs1013330593	-	-
	rs104893628	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs104894061	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs104894062	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs104894066	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs104894068	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs104894135	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894136	Pathogenic	Breast cancer, susceptibility to [MedGen:C3469522]; Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency [MedGen:C3277851]; Deficiency of steroid 17-alpha-monooxygenase [MedGen:C0268285,OMIM:202110,SNOMED CT:124220008]; not provided [MedGen:CN517202]
	rs104894138	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894139	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894140	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894142	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894146	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894147	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894149	-	-
	rs104894149	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs104894150	-	-
	rs104894153	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs1060499582	Pathogenic	Deficiency of steroid 17-alpha-monooxygenase [MedGen:C0268285,OMIM:202110,SNOMED CT:124220008]
	rs11569705	Polymorphism	-
	rs1200476864	-	-
	rs1202368985	-	-
	rs121434534	Disease	Aromatase deficiency (AROD) [MIM:613546]
	rs121434536	Disease	Aromatase deficiency (AROD) [MIM:613546]
	rs121912978	Disease	Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
	rs1245981952	-	-
	rs1257727040	-	-
	rs12721627	Polymorphism	-
	rs12721629	Polymorphism	-
	rs1280898306	-	-
	rs1281169684	-	-
	rs1309748501	-	-
	rs13306279	-	-
	rs137853096	Pathogenic/Likely pathogenic	Bifunctional peroxisomal enzyme deficiency [MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007]; Bifunctional peroxisomal enzyme deficiency [MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007]; Perrault syndrome [MedGen:C0685838,Orphanet:ORPHA2855,SNOMED CT:93466004]; not provided [MedGen:CN517202]
	rs137853165	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853166	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853167	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs137853168	Disease	Ichthyosis, X-linked (IXL) [MIM:308100]
	rs138105638	-	-
	rs139250712	-	-
	rs1392720513	-	-
	rs1405313151	-	-
	rs1423560123	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs142529153	-	-
	rs1430256295	-	-
	rs144457204	-	-
	rs145669559	-	-
	rs146655862	-	-
	rs1477251308	-	-
	rs148542782	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs149081683	-	-
	rs1554652998	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]; not provided [MedGen:CN517202]
	rs1554652999	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs1554653675	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs17134592	-	-
	rs182820353	-	-
	rs190776413	-	-
	rs199558694	-	-
	rs199710929	-	-
	rs200004457	-	-
	rs200730776	-	-
	rs200908381	-	-
	rs201286895	-	-
	rs201526062	-	-
	rs201848142	-	-
	rs267606755	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs28371759	Polymorphism	-
	rs28383477	-	-
	rs2854482	Polymorphism	-
	rs28934586	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs28936701	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs3208363	Polymorphism	-
	rs367634557	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs370245703	-	-
	rs370433029	-	-
	rs373611092	-	-
	rs374926260	-	-
	rs387906751	Pathogenic	46,XY sex reversal 8 [Gene:6994,MedGen:C1839840,OMIM:614279,Orphanet:ORPHA443087]
	rs387907572	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs4539	Polymorphism	-
	rs4986871	Polymorphism	-
	rs4986910	Polymorphism	-
	rs4987161	Polymorphism	-
	rs5312	Polymorphism	-
	rs5317	Polymorphism	-
	rs551933154	-	-
	rs55785340	Polymorphism	-
	rs557905773	-	-
	rs55901263	-	-
	rs55951658	Polymorphism	-
	rs55989760	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs56010818	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs56324128	Polymorphism	-
	rs57865060	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs61751139	-	-
	rs61751148	-	-
	rs61754278	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs62529832	-	-
	rs66583685	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs67784355	Polymorphism	-
	rs72549378	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs72552799	Polymorphism	-
	rs749485571	-	-
	rs749574339	-	-
	rs750090886	-	-
	rs752456881	Polymorphism	-
	rs756271054	-	-
	rs759183694	-	-
	rs760695410	-	-
	rs760695410	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs760880418	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs762631156	Polymorphism	-
	rs764598023	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs765148467	-	-
	rs766107094	-	-
	rs768550964	-	-
	rs772780687	-	-
	rs777638364	Disease	Adrenal hyperplasia 5 (AH5) [MIM:202110]
	rs777678299	-	-
	rs779103938	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]; not provided [MedGen:CN517202]
	rs779490029	-	-
	rs779989195	-	-
	rs780039093	-	-
	rs781200594	-	-
	rs782266548	-	-
	rs782328441	-	-
	rs782421321	-	-
	rs782769364	-	-
	rs78310315	Disease	Aromatase deficiency (AROD) [MIM:613546]
	rs80133417	-	-
	rs866430018	Pathogenic	Deficiency of steroid 11-beta-monooxygenase [MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007]
	rs886041121	Likely pathogenic	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete [MedGen:C3151055,OMIM:613743,Orphanet:ORPHA168558]
	rs887438250	-	-
	rs894320518	-	-
	rs9282670	Polymorphism	-
	rs9341250	Polymorphism	-
	rs943974332	-	-
hsa00220		Arginine biosynthesis
dbSNP		Type	Disease name
	-	Disease	Argininemia (ARGIN) [MIM:207800]
	-	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	-	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1048119191	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs104893943	Disease	Argininemia (ARGIN) [MIM:207800]
	rs104893947	Pathogenic	Arginase deficiency [MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004]; not provided [MedGen:CN517202]
	rs115014558	Polymorphism	-
	rs1176072053	-	-
	rs1202306773	-	-
	rs1202306773	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121908521	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908528	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908529	Pathogenic/Likely pathogenic	Primary hyperoxaluria [MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006]; Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]; not provided [MedGen:CN517202]
	rs121908638	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs121908645	Likely pathogenic	Citrullinemia type I [MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187]
	rs121909732	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121909733	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121909734	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121912592	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121912596	-	-
	rs121912596	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1242028775	-	-
	rs1242028775	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1275599086	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1280211937	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1319489001	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs13408961	Polymorphism	-
	rs1345105436	-	-
	rs1373919219	-	-
	rs1392559810	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1392934477	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs140992177	Polymorphism	-
	rs1414143303	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs146525143	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs149518280	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553512642	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1553513429	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1553518389	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs180177155	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177156	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177157	-	-
	rs180177157	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177161	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177162	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177163	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177173	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177182	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177186	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177191	-	-
	rs180177191	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177195	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177197	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177198	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177199	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177202	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177203	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177208	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177210	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177211	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177214	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177217	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177225	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177243	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177244	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177250	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177259	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177264	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177269	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177272	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177277	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177279	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177284	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177287	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177288	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177290	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177292	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177303	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs201023253	-	-
	rs201071897	-	-
	rs201623252	Polymorphism	-
	rs201623252	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs202107577	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs202108064	-	-
	rs34664134	-	-
	rs34885252	Polymorphism	-
	rs369061090	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs371265106	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs372399525	-	-
	rs4426527	Polymorphism	-
	rs552474817	-	-
	rs61729604	-	-
	rs66550389	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66626662	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66642398	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs66867430	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67156896	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67468335	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67501347	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67870244	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs67960011	Pathogenic	Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
	rs67993095	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs68026851	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554331	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554332	Pathogenic	Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
	rs72554339	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554342	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72554344	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72556276	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72556300	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558404	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558407	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558442	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558443	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558444	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558448	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558449	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558450	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558463	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558464	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558465	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs72558478	Disease	Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
	rs73106685	Polymorphism	-
	rs74205173	-	-
	rs749093544	-	-
	rs749568989	-	-
	rs750670270	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs750905647	-	-
	rs752339705	-	-
	rs752339705	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs756337473	-	-
	rs756437332	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs757205958	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs759201450	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs759836341	-	-
	rs762387914	-	-
	rs762387914	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs763887405	-	-
	rs765196603	-	-
	rs765910470	-	-
	rs768215008	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769018733	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769085115	-	-
	rs770944877	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs771385956	-	-
	rs771794639	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs775163147	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs775305020	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs777233486	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs777828000	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs779013628	-	-
	rs779259590	-	-
	rs796052057	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052060	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052061	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs796052062	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052063	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052064	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052065	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs797045597	Likely pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs80358214	Disease	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
	rs933813349	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs936192871	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
hsa00230		Purine metabolism
dbSNP		Type	Disease name
	-	Likely pathogenic	Severe combined immunodeficiency due to ADA deficiency [MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277]
	-	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
	-	Disease	Costello syndrome (CSTLO) [MIM:218040]
	-	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	-	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
	-	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	-	Pathogenic	Brody myopathy [MedGen:C1832918,OMIM:601003,Orphanet:ORPHA53347]
	-	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	-	Pathogenic	Spinal muscular atrophy, distal, autosomal recessive, 1 [MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920]
	-	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	-	Disease	Retinitis pigmentosa 33 (RP33) [MIM:610359]
	-	Unclassified	Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]
	-	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	-	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	-	Disease	Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
	-	Disease	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
	rs1000661676	-	-
	rs1007813910	-	-
	rs1035500320	-	-
	rs1036185928	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency [MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008]; not provided [MedGen:CN517202]
	rs1046009538	-	-
	rs104893631	Disease	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
	rs104893632	Disease	Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
	rs104893633	Pathogenic	Mitochondrial DNA-depletion syndrome 3, hepatocerebral [MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934]
	rs104894003	Pathogenic/Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Juvenile-onset dystonia [MedGen:C1846331,OMIM:607371,Orphanet:ORPHA79107]; not provided [MedGen:CN517202]
	rs104894028	Pathogenic	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [MedGen:C1849507,OMIM:266120,Orphanet:ORPHA35120]
	rs104894226	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs104894226	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Thymoma [Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
	rs104894227	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs104894228	Disease	Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
	rs104894228	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs104894228	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
	rs104894228	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; NEVUS SPILUS, SOMATIC [na]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; SPITZ NEVUS, SOMATIC [na]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
	rs104894229	Disease	Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
	rs104894229	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Epidermal nevus with urothelial cancer, somatic [MedGen:C3277679]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Nevus, woolly hair [MedGen:C0343114,Orphanet:ORPHA79414]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
	rs104894229	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Bladder carcinoma [Human Phenotype Ontology:HP:0002862,MedGen:C0699885]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
	rs104894230	Unclassified	Bladder carcinoma
	rs104894230	Pathogenic	Bladder cancer, somatic [MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; not provided [MedGen:CN517202]
	rs104894230	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs104894230	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
	rs104894231	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs104894231	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
	rs104894359	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894359	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs104894364	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894365	Pathogenic	Endometrial carcinoma [Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
	rs104894365	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894366	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs104894366	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs104894367	Pathogenic	Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]
	rs104894451	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
	rs104894452	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
	rs104894506	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs104894508	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs1057519430	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	rs1057519742	Pathogenic/Likely pathogenic	Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Intraocular melanoma [Human Phenotype Ontology:HP:0007716,MeSH:C536494,MedGen:C0220633,OMIM:155720]
	rs1057519874	Likely pathogenic	Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]
	rs1057519948	Likely pathogenic	Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]
	rs1057519951	Likely pathogenic	Adenocarcinoma of stomach [MedGen:C0278701]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
	rs1064794287	Pathogenic	Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
	rs1064794574	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	rs1064794680	-	-
	rs112445441	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]
	rs112445441	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
	rs1135401758	Likely pathogenic	Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]; not provided [MedGen:CN517202]
	rs1135401776	Pathogenic	Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]
	rs114636410	-	-
	rs11549976	Polymorphism	-
	rs11554273	Pathogenic/Likely pathogenic	Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Cushing's syndrome [MedGen:C1857451,OMIM:219080]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; McCune-Albright syndrome [MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; PITUITARY ADENOMA 3, MULTIPLE TYPES [MedGen:C4540135,OMIM:617686]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Sex cord-stromal tumor [MedGen:C0206724]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
	rs11554290	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Congenital giant melanocytic nevus [Human Phenotype Ontology:HP:0005600,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Follicular thyroid carcinoma [Human Phenotype Ontology:HP:0006731,MedGen:C4225426,OMIM:188470]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neurocutaneous melanosis [MedGen:C0544862,OMIM:249400,Orphanet:ORPHA2481]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
	rs1158027383	-	-
	rs1167433865	-	-
	rs1177201180	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs1184952683	-	-
	rs1204316787	Pathogenic	Mitochondrial DNA-depletion syndrome 3, hepatocerebral [MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934]
	rs121434478	Pathogenic	AICAR transformylase/IMP cyclohydrolase deficiency [MedGen:C1837530,OMIM:608688,Orphanet:ORPHA250977]
	rs121434595	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of colon [MedGen:C0699790,OMIM:114500,SNOMED CT:269533000]; Congenital giant melanocytic nevus [Human Phenotype Ontology:HP:0005600,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs121434595	Likely pathogenic	Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]
	rs121434596	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Noonan syndrome 6 [MedGen:C2750732,OMIM:613224]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
	rs121908714	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908717	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908724	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908725	Disease	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs121908759	Pathogenic/Likely pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]; Hereditary pancreatitis [MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000]; not provided [MedGen:CN517202]
	rs121908759	Unclassified	Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
	rs121908805	Pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]; not provided [MedGen:CN517202]
	rs121908951	Disease	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
	rs121909009	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs121909033	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs121912734	Pathogenic	Keratosis follicularis [MedGen:C0022595,OMIM:124200,Orphanet:ORPHA218,SNOMED CT:48611009]
	rs121913233	Likely pathogenic	Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Vascular Tumors Including Pyogenic Granuloma [na]; not provided [MedGen:CN517202]
	rs121913233	Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs121913237	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
	rs121913240	Unclassified	A colorectal cancer sample
	rs121913250	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
	rs121913250	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic myelogenous leukemia [Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
	rs121913255	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
	rs121913492	Pathogenic/Likely pathogenic	Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Intraocular melanoma [Human Phenotype Ontology:HP:0007716,MeSH:C536494,MedGen:C0220633,OMIM:155720]
	rs121913494	Pathogenic	McCune-Albright syndrome [MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562]; PITUITARY ADENOMA 3, MULTIPLE TYPES [MedGen:C4540135,OMIM:617686]
	rs121913495	Pathogenic/Likely pathogenic	Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Cushing's syndrome [MedGen:C1857451,OMIM:219080]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; McCune-Albright syndrome [MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; PITUITARY ADENOMA 3, MULTIPLE TYPES [MedGen:C4540135,OMIM:617686]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Sex cord-stromal tumor [MedGen:C0206724]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
	rs121913496	Likely pathogenic	Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs121913527	Unclassified	A colorectal cancer sample
	rs121913528	Disease	Gastric cancer (GASC) [MIM:613659]
	rs121913529	Unclassified	A colorectal cancer sample
	rs121913529	Pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Carcinoma of pancreas [MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002]; Cerebral arteriovenous malformation [Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Lung cancer [MedGen:C0684249,OMIM:211980,SNOMED CT:187875007]; Neoplasm of ovary [Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001]; Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Vascular Tumors Including Pyogenic Granuloma [na]; not provided [MedGen:CN517202]
	rs121913529	Pathogenic/Likely pathogenic	Gastrointestinal stroma tumor [Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]
	rs121913529	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
	rs121913529	Disease	Gastric cancer (GASC) [MIM:613659]
	rs121913530	Unclassified	Lung carcinoma
	rs121913530	Pathogenic	Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Bladder cancer, somatic [MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
	rs121913530	Disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
	rs121913530	Pathogenic	Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Neoplasm of ovary [Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001]; Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
	rs121913530	Pathogenic/Likely pathogenic	Endometrial carcinoma [Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Lung cancer [MedGen:C0684249,OMIM:211980,SNOMED CT:187875007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]
	rs121913535	Polymorphism	-
	rs121913535	Pathogenic	Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; not provided [MedGen:CN517202]
	rs121917757	Likely pathogenic	Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; not provided [MedGen:CN517202]
	rs121917758	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs121917759	Disease	Costello syndrome (CSTLO) [MIM:218040]
	rs121917759	Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
	rs121917887	Polymorphism	-
	rs121918614	Pathogenic	Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
	rs121918620	Pathogenic	Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
	rs121964852	Pathogenic	Cap myopathy 1 [MedGen:C3714994]; Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]; Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]; Nemaline myopathy 1 [MedGen:C1836448,OMIM:609284]; Nemaline myopathy 1 [MedGen:C1836448,OMIM:609284]; not provided [MedGen:CN517202]
	rs121964854	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]; Nemaline myopathy 1 [MedGen:C1836448,OMIM:609284]; not provided [MedGen:CN517202]
	rs1221315322	-	-
	rs1244531323	-	-
	rs1247270735	-	-
	rs1248393347	-	-
	rs1267519974	Likely pathogenic	Mental retardation, X-linked 102 [MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260]
	rs1283442932	-	-
	rs1297642271	-	-
	rs1298336881	-	-
	rs1300241521	-	-
	rs1323796901	-	-
	rs1329985221	-	-
	rs1339474843	-	-
	rs1340227061	-	-
	rs1343080275	-	-
	rs1356115868	-	-
	rs1364564756	-	-
	rs1372608166	-	-
	rs1376129073	-	-
	rs137852485	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
	rs137852487	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852488	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852489	Pathogenic	Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
	rs137852496	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs137852497	Pathogenic	Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
	rs137852498	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
	rs137852503	Pathogenic, other	HPRT TOKYO [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
	rs137852504	Disease	Gout HPRT-related (GOUT-HPRT) [MIM:300323]
	rs137852543	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137852545	Disease	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
	rs137853194	Pathogenic	Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
	rs137853226	Pathogenic	Pituitary dependent hypercortisolism [MedGen:C0221406,OMIM:219090,SNOMED CT:190502001]
	rs137854533	Pathogenic	McCune-Albright syndrome [MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562]
	rs137854533	Pathogenic	PITUITARY ADENOMA 3, MULTIPLE TYPES [MedGen:C4540135,OMIM:617686]
	rs137915627	-	-
	rs138825464	-	-
	rs1388698482	-	-
	rs139190720	-	-
	rs139499540	-	-
	rs139573311	Pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]; not provided [MedGen:CN517202]
	rs139689788	-	-
	rs1397449789	-	-
	rs1405334512	-	-
	rs140928408	-	-
	rs1411730717	-	-
	rs141437989	-	-
	rs141810774	-	-
	rs142619172	-	-
	rs142839840	-	-
	rs1440561057	-	-
	rs144181978	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
	rs145097404	-	-
	rs145142862	-	-
	rs146045963	-	-
	rs146054415	-	-
	rs1464427483	-	-
	rs1465803265	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	rs1477361505	-	-
	rs149353437	-	-
	rs149917863	-	-
	rs150181226	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs150262349	-	-
	rs151079750	Disease	Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
	rs1553396458	Likely pathogenic	Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
	rs1553500862	Pathogenic	KERATOCONUS 9 [MedGen:C4693660,OMIM:617928]
	rs1554126925	Likely pathogenic	Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]
	rs1554258695	Likely pathogenic	Dyskinesia, limb and orofacial, infantile-onset [MedGen:C4310792,OMIM:616921]
	rs1554263326	Pathogenic	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
	rs1554264268	Likely pathogenic	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]; not provided [MedGen:CN517202]
	rs1554329113	Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
	rs1554859966	Pathogenic	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526]
	rs1555690779	Pathogenic	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER [MedGen:C4540498,OMIM:617807]
	rs1555690804	Pathogenic	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER [MedGen:C4540498,OMIM:617807]
	rs1555954105	Pathogenic	Mental retardation, X-linked 102 [MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260]
	rs17851045	Unclassified	Lung carcinoma
	rs17851045	Pathogenic/Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs17853396	Polymorphism	-
	rs1800089	Polymorphism	-
	rs183618664	-	-
	rs188888716	-	-
	rs193922500	Likely pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]; not provided [MedGen:CN517202]
	rs199761904	-	-
	rs199897325	-	-
	rs200010374	-	-
	rs200204024	-	-
	rs200637968	-	-
	rs200790521	-	-
	rs200913020	-	-
	rs200971951	-	-
	rs201354416	-	-
	rs201461737	-	-
	rs201477144	-	-
	rs201823652	Pathogenic	Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
	rs202092105	-	-
	rs202097988	-	-
	rs2372536	-	-
	rs2672150	-	-
	rs267606635	Unclassified	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
	rs267606699	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606700	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606701	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606863	Disease	Lesch-Nyhan syndrome (LNS) [MIM:300322]
	rs267606920	Pathogenic	Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 6 [MedGen:C2750732,OMIM:613224]; not provided [MedGen:CN517202]
	rs281875326	Pathogenic	Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
	rs281875331	Pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
	rs28933401	Pathogenic	Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
	rs28933406	Pathogenic/Likely pathogenic	Follicular thyroid carcinoma [Human Phenotype Ontology:HP:0006731,MedGen:C4225426,OMIM:188470]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Spermatocytic seminoma [MedGen:C0334517,Orphanet:ORPHA99865]; not provided [MedGen:CN517202]
	rs28933406	Likely pathogenic	Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
	rs28999113	-	-
	rs28999113	Disease	Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
	rs34082669	Polymorphism	-
	rs34354104	Polymorphism	-
	rs35698797	Polymorphism	-
	rs367543028	Pathogenic	Bloom syndrome [MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006]; not provided [MedGen:CN517202]
	rs367637749	-	-
	rs368366043	-	-
	rs369010777	-	-
	rs369522795	-	-
	rs369643556	-	-
	rs370539470	-	-
	rs371090069	-	-
	rs372332465	-	-
	rs372401715	-	-
	rs372631124	Likely pathogenic	Desbuquois dysplasia 1 [MedGen:C4012146,OMIM:251450]; EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 [MedGen:C4540251,OMIM:617719]
	rs373442940	-	-
	rs373458753	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
	rs373875697	-	-
	rs374259530	Pathogenic	Adenylosuccinate lyase deficiency [MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008]; Difficulty standing [Human Phenotype Ontology:HP:0003698,MedGen:C0241237]; Generalized myoclonic seizures [Human Phenotype Ontology:HP:0002123,MedGen:C4021759]; Inability to walk [Human Phenotype Ontology:HP:0002540,MedGen:C0560046]; Progressive neurologic deterioration [Human Phenotype Ontology:HP:0002344,MedGen:C1854838]; Severe global developmental delay [Human Phenotype Ontology:HP:0011344,MedGen:C1837397]; not provided [MedGen:CN517202]
	rs375997993	-	-
	rs376698630	-	-
	rs376788669	-	-
	rs3863907	-	-
	rs387906643	Disease	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
	rs387907178	Pathogenic	Auriculocondylar syndrome 1 [MedGen:C4551996,OMIM:602483]
	rs387907206	Disease	Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
	rs397508174	Pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]
	rs397508175	Pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]
	rs397508195	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs397508282	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs397508288	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs397508313	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs397514452	Disease	Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
	rs397514454	Disease	Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
	rs397514469	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
	rs397514553	Pathogenic	Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]
	rs397514698	Pathogenic	Capillary malformation [Human Phenotype Ontology:HP:0025104,MedGen:C0340803,OMIM:163000,Orphanet:ORPHA211247]; Capillary malformation [Human Phenotype Ontology:HP:0025104,MedGen:C0340803,OMIM:163000,Orphanet:ORPHA211247]; Sturge-Weber syndrome [MedGen:C0038505,OMIM:185300]; Sturge-Weber syndrome [MedGen:C0038505,OMIM:185300]
	rs397514768	Pathogenic	Auriculocondylar syndrome 1 [MedGen:C4551996,OMIM:602483]
	rs397515577	Pathogenic	Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
	rs397516685	Pathogenic/Likely pathogenic	Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
	rs4494683	-	-
	rs483352809	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
	rs4850168	-	-
	rs4850284	-	-
	rs527573101	-	-
	rs529535145	-	-
	rs530783531	-	-
	rs532262598	-	-
	rs534828213	-	-
	rs540403059	-	-
	rs540648461	-	-
	rs544321005	-	-
	rs550374458	-	-
	rs552264498	-	-
	rs552746066	-	-
	rs553548999	-	-
	rs556944473	-	-
	rs559384888	-	-
	rs564547553	-	-
	rs564873625	-	-
	rs574110525	-	-
	rs575750582	-	-
	rs575921260	-	-
	rs577200385	-	-
	rs5832	Polymorphism	-
	rs5837	Polymorphism	-
	rs587776983	Pathogenic	Autosomal dominant torsion dystonia 4 [MedGen:C1851943,OMIM:128101,Orphanet:ORPHA98805]; Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
	rs587777020	Pathogenic	Hypocalcemia, autosomal dominant 2 [MedGen:C3809243,OMIM:615361]
	rs587777173	Pathogenic	Spastic paraplegia 45, autosomal recessive [Gene:100322879,MedGen:C3888209,OMIM:613162]
	rs587777188	Disease	Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
	rs587777467	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]; not provided [MedGen:CN517202]
	rs587777468	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
	rs587777861	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
	rs587779770	Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
	rs587779771	Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
	rs587779777	Pathogenic/Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
	rs587780587	Likely pathogenic	Mitochondrial DNA-depletion syndrome 3, hepatocerebral [MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934]
	rs587783037	Pathogenic	Bloom syndrome [MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006]
	rs587784495	Pathogenic	Lissencephaly 3 [MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011]
	rs62163561	-	-
	rs62165871	-	-
	rs72554654	Disease	Menkes disease (MNKD) [MIM:309400]
	rs727503093	Likely pathogenic	Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
	rs727503109	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs727503110	Disease	Noonan syndrome 3 (NS3) [MIM:609942]
	rs727503110	Pathogenic	Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
	rs730880029	Pathogenic	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia [MedGen:C4015512,OMIM:616208]
	rs74315507	Pathogenic	Neutrophil immunodeficiency syndrome [MedGen:C1842398,OMIM:608203,Orphanet:ORPHA183707]
	rs745806214	-	-
	rs745957262	-	-
	rs746930990	Pathogenic	Epileptic encephalopathy, early infantile, 35 [MedGen:C4225256,OMIM:616647,Orphanet:ORPHA457375]
	rs747281324	Disease	Bloom syndrome (BLM) [MIM:210900]
	rs747544959	-	-
	rs749042624	-	-
	rs749209037	-	-
	rs749246739	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs749484894	Likely pathogenic	Severe combined immunodeficiency due to ADA deficiency [MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277]
	rs749698460	-	-
	rs750203790	-	-
	rs750918391	-	-
	rs752054462	-	-
	rs75205792	-	-
	rs752127722	-	-
	rs752691887	-	-
	rs752819438	-	-
	rs752868920	-	-
	rs753258609	-	-
	rs753634322	-	-
	rs754337553	-	-
	rs754465217	-	-
	rs754960642	-	-
	rs755051255	-	-
	rs755290317	-	-
	rs757304363	-	-
	rs758029716	-	-
	rs759631177	-	-
	rs760270633	Disease	Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
	rs760967532	-	-
	rs761483742	-	-
	rs761592113	-	-
	rs762276870	-	-
	rs762550967	Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
	rs763187569	-	-
	rs763589704	-	-
	rs763615602	Disease	Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]
	rs763615602	Pathogenic/Likely pathogenic	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 [na]; Portal hypertension, noncirrhotic [MedGen:C4310735,OMIM:617068]; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [MedGen:C4310733,OMIM:617070,Orphanet:ORPHA329314]
	rs763630436	-	-
	rs764400206	-	-
	rs764422810	-	-
	rs764729616	-	-
	rs765408826	-	-
	rs765804497	-	-
	rs766317703	-	-
	rs766606700	-	-
	rs766789172	-	-
	rs767632371	-	-
	rs768361068	-	-
	rs768422992	-	-
	rs768978971	-	-
	rs770248150	Unclassified	A colorectal cancer sample
	rs770248150	Pathogenic/Likely pathogenic	Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
	rs770431044	-	-
	rs77101217	Pathogenic	Cystic fibrosis [MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008]; not provided [MedGen:CN517202]
	rs771034023	-	-
	rs77172375	-	-
	rs771776126	-	-
	rs772319638	-	-
	rs77239104	-	-
	rs772893062	-	-
	rs773222168	-	-
	rs773518859	-	-
	rs773901293	-	-
	rs774406575	-	-
	rs775032909	-	-
	rs775097749	-	-
	rs775209507	-	-
	rs775316562	-	-
	rs775915028	-	-
	rs776501959	-	-
	rs778404835	-	-
	rs780526529	Disease	Cystic fibrosis (CF) [MIM:219700]
	rs780813956	-	-
	rs78160297	-	-
	rs782166627	-	-
	rs782463394	-	-
	rs782573516	-	-
	rs786204847	Disease	Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
	rs786204848	Disease	Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
	rs786205585	Likely pathogenic	Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
	rs796052223	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	rs796052231	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	rs797045025	Disease	Mental retardation, X-linked 102 (MRX102) [MIM:300958]
	rs797045203	Pathogenic	McCune-Albright syndrome [MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562]
	rs797045376	Likely pathogenic	Menkes kinky-hair syndrome [MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007]
	rs797045378	Pathogenic	Menkes kinky-hair syndrome [MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007]
	rs797046075	Pathogenic/Likely pathogenic	Polymicrogyria, asymmetric [MedGen:C3552236,OMIM:610031]; not provided [MedGen:CN517202]
	rs80338675	Disease	ARTS syndrome (ARTS) [MIM:301835]
	rs863224876	Likely pathogenic	Pseudohypoparathyroidism [Human Phenotype Ontology:HP:0000852,MedGen:C3494506,OMIM:103580,Orphanet:ORPHA79443]; Pseudohypoparathyroidism type 1C [MedGen:C2932716,OMIM:612462,Orphanet:ORPHA79444]
	rs864321676	Pathogenic	Michelin-tire baby [MedGen:C4551592,OMIM:156610,SNOMED CT:239142006]
	rs864321677	Pathogenic	Michelin-tire baby [MedGen:C4551592,OMIM:156610,SNOMED CT:239142006]
	rs866311885	-	-
	rs869025271	Pathogenic	Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
	rs869025273	Pathogenic	Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
	rs869025593	Pathogenic	Arts syndrome [MedGen:C0796028,OMIM:301835,Orphanet:ORPHA1187]; Deafness, X-linked 1 [MedGen:C1844677,OMIM:304500]
	rs869025609	Pathogenic	Oocyte maturation defect 2 [MedGen:C4225210,OMIM:616780]
	rs869312692	Pathogenic	Mental retardation, X-linked 102 [MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260]
	rs869312702	Pathogenic/Likely pathogenic	Cerebellar ataxia [Human Phenotype Ontology:HP:0001251,MedGen:C0007758,SNOMED CT:85102008]; Epileptic encephalopathy [Human Phenotype Ontology:HP:0200134,MedGen:C0543888]; Epileptic encephalopathy, early infantile, 31 [MedGen:C4225357,OMIM:616346]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Stereotypy [Human Phenotype Ontology:HP:0000733,MedGen:C0038273]
	rs875989802	Likely pathogenic	Mental retardation, X-linked 102 [MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260]
	rs875989840	Disease	Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]
	rs875989841	Disease	Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]
	rs878853256	Pathogenic	Cortical dysplasia, complex, with other brain malformations 1 [MedGen:C3808397,OMIM:614039]
	rs878854374	Likely pathogenic	Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
	rs879255688	Disease	Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]
	rs886037663	Pathogenic	Cortical dysplasia, complex, with other brain malformations 5 [MedGen:C3810407,OMIM:615763]
	rs886041007	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
	rs886041010	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
	rs886041014	Pathogenic	Leukodystrophy, hypomyelinating, 6 [MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441]
	rs895006179	-	-
	rs896550845	-	-
	rs9636610	-	-
	rs985929069	-	-
hsa00232		Caffeine metabolism
dbSNP		Type	Disease name
	-	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	-	Pathogenic	Glaucoma 3, primary congenital, A [MedGen:C1856439,OMIM:231300]
	rs104893628	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs148542782	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs192453952	-	-
	rs28936701	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs557905773	-	-
	rs55989760	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs56010818	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs57865060	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs66583685	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs669884	Polymorphism	-
	rs72549378	Disease	Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
	rs752456881	Polymorphism	-
	rs777678299	-	-
	rs9341250	Polymorphism	-
hsa00240		Pyrimidine metabolism
dbSNP		Type	Disease name
	-	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	-	Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]
	-	Unclassified	Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]
	rs1000661676	-	-
	rs104894028	Pathogenic	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [MedGen:C1849507,OMIM:266120,Orphanet:ORPHA35120]
	rs104894029	Pathogenic	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [MedGen:C1849507,OMIM:266120,Orphanet:ORPHA35120]
	rs104894452	Disease	Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
	rs1057516671	Likely pathogenic	Dihydropyrimidine dehydrogenase deficiency [MedGen:C2720286,OMIM:274270]
	rs1064792867	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type) [MedGen:C4551995,OMIM:603041]
	rs115222424	-	-
	rs1212037891	-	-
	rs121913037	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
	rs121913039	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type) [MedGen:C4551995,OMIM:603041]; not provided [MedGen:CN517202]
	rs121913041	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type) [MedGen:C4551995,OMIM:603041]
	rs121917887	Polymorphism	-
	rs1222936229	-	-
	rs1270571213	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
	rs138110445	-	-
	rs138825464	-	-
	rs140602333	-	-
	rs1440561057	-	-
	rs146054415	-	-
	rs147984615	-	-
	rs149977726	Disease	Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
	rs150181226	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs17843776	-	-
	rs201047833	-	-
	rs201461737	-	-
	rs201761717	-	-
	rs267606699	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606700	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs267606701	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs34082669	Polymorphism	-
	rs368327291	-	-
	rs369010777	-	-
	rs370539470	-	-
	rs372332465	-	-
	rs372631124	Likely pathogenic	Desbuquois dysplasia 1 [MedGen:C4012146,OMIM:251450]; EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 [MedGen:C4540251,OMIM:617719]
	rs387907280	Pathogenic	Interstitial nephritis, karyomegalic [MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996]
	rs527580106	-	-
	rs56005131	-	-
	rs564873625	-	-
	rs587777173	Pathogenic	Spastic paraplegia 45, autosomal recessive [Gene:100322879,MedGen:C3888209,OMIM:613162]
	rs59086055	-	-
	rs749246739	Disease	Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
	rs749313159	-	-
	rs751703979	Disease	Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
	rs752868920	-	-
	rs753379195	-	-
	rs756580671	-	-
	rs759225435	-	-
	rs760099482	-	-
	rs761665644	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type) [MedGen:C4551995,OMIM:603041]
	rs762276870	-	-
	rs762529775	-	-
	rs763322504	-	-
	rs763355511	-	-
	rs763630436	-	-
	rs765396900	-	-
	rs765408826	-	-
	rs770371904	Likely pathogenic	Desbuquois dysplasia 1 [MedGen:C4012146,OMIM:251450]
	rs771776626	-	-
	rs773499729	-	-
	rs773721953	-	-
	rs775032909	-	-
	rs775316562	-	-
	rs7867616	-	-
	rs895833357	-	-
	rs967806646	-	-
hsa00250		Alanine, aspartate and glutamate metabolism
dbSNP		Type	Disease name
	-	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	-	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	-	Disease	Canavan disease (CAND) [MIM:271900]
	-	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs1014551540	Disease	Canavan disease (CAND) [MIM:271900]
	rs1036185928	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency [MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008]; not provided [MedGen:CN517202]
	rs1046009538	-	-
	rs1048119191	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs104894550	Disease	Canavan disease (CAND) [MIM:271900]
	rs104894551	Disease	Canavan disease (CAND) [MIM:271900]
	rs104894553	-	-
	rs104894553	Likely pathogenic	Canavan disease, mild [MedGen:C4017127]; Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
	rs115014558	Polymorphism	-
	rs1176072053	-	-
	rs118203982	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency [MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000]; not provided [MedGen:CN517202]
	rs1202306773	-	-
	rs1202306773	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121434578	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs121908520	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908521	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908522	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908524	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908526	-	-
	rs121908526	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908527	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908528	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908529	Pathogenic/Likely pathogenic	Primary hyperoxaluria [MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006]; Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]; not provided [MedGen:CN517202]
	rs121908530	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908638	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs121908645	Likely pathogenic	Citrullinemia type I [MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187]
	rs121909732	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121909733	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121909734	Pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs121912592	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs121912596	-	-
	rs121912596	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1235382146	-	-
	rs1242028775	-	-
	rs1242028775	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1275599086	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1280211937	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs12948217	Pathogenic	Canavan Disease, Familial Form [MedGen:C0751663]; Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]; not provided [MedGen:CN517202]
	rs1319489001	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1326526453	-	-
	rs1326526453	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs1330995774	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs13408961	Polymorphism	-
	rs1364564756	-	-
	rs137852937	Disease	Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
	rs1392559810	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1392934477	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs140581464	-	-
	rs140992177	Polymorphism	-
	rs1414143303	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1414684396	Disease	Canavan disease (CAND) [MIM:271900]
	rs142114432	-	-
	rs1446467099	Disease	Canavan disease (CAND) [MIM:271900]
	rs145087265	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs146525143	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs149518280	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs1553512642	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1553513429	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs1553518389	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs180177155	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177156	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177157	-	-
	rs180177157	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177161	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177162	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177163	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177173	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177182	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177184	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177185	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177186	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177189	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177191	-	-
	rs180177191	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177195	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177197	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177198	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177199	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177202	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177203	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177208	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177210	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177211	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177214	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177217	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177225	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177236	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177243	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177244	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177247	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177248	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177250	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177252	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177253	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177259	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177264	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177269	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177271	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177272	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177277	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177279	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177284	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177287	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177288	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177289	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177290	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177292	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177303	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs200207185	-	-
	rs201623252	Polymorphism	-
	rs201623252	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs202092105	-	-
	rs202107577	Likely pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs202108064	-	-
	rs28940279	Disease	Canavan disease (CAND) [MIM:271900]
	rs34664134	-	-
	rs34885252	Polymorphism	-
	rs368127499	-	-
	rs369061090	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs371265106	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs372399525	-	-
	rs373458753	Disease	Adenylosuccinase deficiency (ADSLD) [MIM:103050]
	rs375628463	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs375736464	Likely pathogenic	Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
	rs377342766	-	-
	rs4426527	Polymorphism	-
	rs536205988	-	-
	rs540648461	-	-
	rs552474817	-	-
	rs556944473	-	-
	rs61729604	-	-
	rs62621664	Polymorphism	-
	rs72552283	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs73106685	Polymorphism	-
	rs74205173	-	-
	rs748725086	-	-
	rs749093544	-	-
	rs749313159	-	-
	rs749568989	-	-
	rs750670270	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs750905647	-	-
	rs751156234	-	-
	rs752339705	-	-
	rs752339705	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs753379195	-	-
	rs756337473	-	-
	rs756437332	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs757205958	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs759201450	Pathogenic	Congenital hyperammonemia, type I [MedGen:C4082171,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004]
	rs759836341	-	-
	rs761064915	Disease	Canavan disease (CAND) [MIM:271900]
	rs762387914	-	-
	rs762387914	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs762529775	-	-
	rs763355511	-	-
	rs763589704	-	-
	rs765196603	-	-
	rs765561257	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs765649468	-	-
	rs765804497	-	-
	rs765910470	-	-
	rs768215008	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769018733	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs769085115	-	-
	rs770706390	Disease	Canavan disease (CAND) [MIM:271900]
	rs770944877	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs771385956	-	-
	rs771794639	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs773049803	Disease	Canavan disease (CAND) [MIM:271900]
	rs774323189	Disease	Canavan disease (CAND) [MIM:271900]
	rs774496720	-	-
	rs775163147	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs775305020	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs776777887	Disease	Canavan disease (CAND) [MIM:271900]
	rs777233486	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs777828000	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs778448554	-	-
	rs779013628	-	-
	rs779259590	-	-
	rs781581679	-	-
	rs796052057	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052059	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052060	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052061	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs796052062	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052063	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052064	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052065	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052066	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs797045597	Likely pathogenic	Hyperinsulinism-hyperammonemia syndrome [MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878]
	rs80358214	Disease	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
	rs886043944	-	-
	rs923744167	-	-
	rs933813349	Disease	Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
	rs936192871	Disease	Citrullinemia 1 (CTLN1) [MIM:215700]
	rs937670540	Disease	Canavan disease (CAND) [MIM:271900]
rn00254		Aflatoxin biosynthesis
dbSNP		Type	Disease name
	rs1357271377	Unclassified	A colorectal cancer sample
hsa00260		Glycine, serine and threonine metabolism
dbSNP		Type	Disease name
	-	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	-	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1041969	Polymorphism	-
	rs104894036	Disease	Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
	rs104894694	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1126673	-	-
	rs115014558	Polymorphism	-
	rs1170128038	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs117195882	-	-
	rs1176072053	-	-
	rs1191141364	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs1209918450	-	-
	rs121907889	Pathogenic	Glycine N-methyltransferase deficiency [MedGen:C1847720,OMIM:606664,Orphanet:ORPHA289891]
	rs121908331	Likely pathogenic	Dimethylglycine dehydrogenase deficiency [MedGen:C1853892,OMIM:605850,Orphanet:ORPHA243343]; not provided [MedGen:CN517202]
	rs121908520	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908521	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908522	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908524	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908526	-	-
	rs121908526	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908527	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121908528	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs121908529	Pathogenic/Likely pathogenic	Primary hyperoxaluria [MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006]; Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]; not provided [MedGen:CN517202]
	rs121908530	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs121909272	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs121964925	Disease	Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
	rs121964962	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964967	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964969	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964972	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964973	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964988	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1229984	Polymorphism	-
	rs1239594775	-	-
	rs1311224546	-	-
	rs1327662246	-	-
	rs13408961	Polymorphism	-
	rs1366833576	-	-
	rs1371496558	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs138025751	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs139166171	-	-
	rs1393023702	-	-
	rs139396226	-	-
	rs140778208	Polymorphism	-
	rs140992177	Polymorphism	-
	rs142114432	-	-
	rs142814307	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs1441030187	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs144503922	-	-
	rs1447665588	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1450940305	-	-
	rs1463626619	-	-
	rs1464223176	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs146525143	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs1471862905	-	-
	rs148865119	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs149119723	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs149408684	-	-
	rs150338273	Polymorphism	-
	rs180177155	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177156	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177157	-	-
	rs180177157	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177161	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177162	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177163	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177173	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177181	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177182	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177184	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177185	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177186	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177189	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177191	-	-
	rs180177191	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177195	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177197	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177198	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177199	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177202	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177203	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177208	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177210	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177211	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177214	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177217	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177225	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177236	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177238	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177243	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177244	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177247	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177248	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177250	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177252	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177253	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177259	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177262	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177263	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177264	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177269	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177271	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177272	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177277	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177279	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177284	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177287	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177288	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177289	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177290	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs180177292	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177303	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs180177312	Pathogenic	Primary hyperoxaluria, type II [MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006]
	rs180177314	Pathogenic	Primary hyperoxaluria [MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006]; Primary hyperoxaluria, type II [MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006]
	rs180177322	-	-
	rs180177322	Pathogenic	Primary hyperoxaluria, type II [MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006]
	rs180177323	Pathogenic	Primary hyperoxaluria, type II [MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006]
	rs1805073	-	-
	rs1805074	-	-
	rs182600362	-	-
	rs199948079	Likely pathogenic	Homocystinuria due to CBS deficiency [MedGen:C0751202,OMIM:236200,Orphanet:ORPHA394]
	rs200244541	-	-
	rs200543916	-	-
	rs200833152	Polymorphism	-
	rs201256313	-	-
	rs201835306	-	-
	rs201934016	-	-
	rs202108064	-	-
	rs202241708	-	-
	rs2066702	Polymorphism	-
	rs267606947	Likely pathogenic	Neu-Laxova syndrome 1 [MedGen:C4551478,OMIM:256520]; Phosphoglycerate dehydrogenase deficiency [MedGen:C1866174,OMIM:601815]
	rs267606947	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
	rs267606949	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
	rs28730628	Polymorphism	-
	rs28941786	Disease	Cystathioninuria (CSTNU) [MIM:219500]
	rs34664134	-	-
	rs34885252	Polymorphism	-
	rs35385902	Polymorphism	-
	rs367861880	-	-
	rs370421531	Pathogenic	Cerebral creatine deficiency syndrome [MedGen:CN227588,Orphanet:ORPHA79172]; Deficiency of guanidinoacetate methyltransferase [MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003]; not provided [MedGen:CN517202]
	rs371260220	-	-
	rs371807385	-	-
	rs372027428	Polymorphism	-
	rs372399525	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs3733890	-	-
	rs374024099	-	-
	rs376106786	-	-
	rs376982466	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs377578020	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs377699817	-	-
	rs397514708	Pathogenic	Arginine:glycine amidinotransferase deficiency [MedGen:C2675179,OMIM:612718,Orphanet:ORPHA35704]
	rs4426527	Polymorphism	-
	rs536205988	-	-
	rs543745251	-	-
	rs545372800	-	-
	rs552474817	-	-
	rs555959266	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs56251804	-	-
	rs565509522	-	-
	rs56709544	-	-
	rs571416651	-	-
	rs587777775	Pathogenic	Neu-Laxova syndrome 1 [MedGen:C4551478,OMIM:256520]
	rs61729604	-	-
	rs73106685	Polymorphism	-
	rs74205173	-	-
	rs74451421	-	-
	rs746575551	Likely pathogenic	Homocystinuria due to CBS deficiency [MedGen:C0751202,OMIM:236200,Orphanet:ORPHA394]
	rs747089244	-	-
	rs747209153	-	-
	rs747608698	-	-
	rs749568989	-	-
	rs750389182	-	-
	rs750905647	-	-
	rs751972865	Disease	Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
	rs754079169	-	-
	rs755952006	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs756437332	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs757985056	-	-
	rs758236584	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs758916006	-	-
	rs75967634	-	-
	rs759836341	-	-
	rs760214620	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs760782027	-	-
	rs761647392	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs762065361	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs762757818	-	-
	rs762922297	-	-
	rs763392896	-	-
	rs763835246	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs765070826	-	-
	rs765649468	-	-
	rs765910470	-	-
	rs766553422	-	-
	rs768492092	-	-
	rs769763635	-	-
	rs771298943	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs771385956	-	-
	rs773503933	-	-
	rs773734233	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs774144200	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs774423823	-	-
	rs776400068	-	-
	rs779013628	-	-
	rs779270933	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs780172339	-	-
	rs781266642	-	-
	rs781510366	-	-
	rs78599516	-	-
	rs786204545	-	-
	rs786204545	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052057	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052059	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052060	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052061	Disease	Hyperoxaluria primary 1 (HP1) [MIM:259900]
	rs796052062	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052063	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052064	Likely pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052065	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052066	Pathogenic	Primary hyperoxaluria, type I [MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001]
	rs796052079	-	-
	rs796052079	Pathogenic	Primary hyperoxaluria, type II [MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006]
	rs80338734	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs864321678	Disease	Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs886054247	Likely pathogenic	Deficiency of guanidinoacetate methyltransferase [MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003]
	rs946974235	-	-
	rs964520949	-	-
rn00261		Monobactam biosynthesis
dbSNP		Type	Disease name
	rs140928408	-	-
	rs183618664	-	-
	rs775097749	-	-
hsa00270		Cysteine and methionine metabolism
dbSNP		Type	Disease name
	-	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs1011808569	-	-
	rs1018955701	-	-
	rs1170128038	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs118203916	Pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs118204001	Pathogenic	Hepatic methionine adenosyltransferase deficiency [MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009]
	rs118204002	Pathogenic	Hepatic methionine adenosyltransferase deficiency [MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009]
	rs118204005	Pathogenic	Hepatic methionine adenosyltransferase deficiency [MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009]
	rs1191141364	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121908943	Pathogenic	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [MedGen:C4551557,OMIM:242860,SNOMED CT:234633000]
	rs121913580	Pathogenic	METHYLCOBALAMIN DEFICIENCY, cblG TYPE [MedGen:C1855128,OMIM:250940,Orphanet:ORPHA2170]
	rs121964962	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964963	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964966	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964967	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964968	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964969	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964970	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs121964972	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs1311224546	-	-
	rs1347651454	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs1366833576	-	-
	rs137852727	Pathogenic	Chromosome 9q deletion syndrome [MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494]
	rs138556525	Pathogenic	Hepatic methionine adenosyltransferase deficiency [MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009]; not provided [MedGen:CN517202]
	rs139166171	-	-
	rs1408616607	-	-
	rs142847271	-	-
	rs144503922	-	-
	rs1464223176	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs1467808566	-	-
	rs149119723	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs181309650	-	-
	rs182600362	-	-
	rs184074326	-	-
	rs199586854	-	-
	rs199948079	Likely pathogenic	Homocystinuria due to CBS deficiency [MedGen:C0751202,OMIM:236200,Orphanet:ORPHA394]
	rs201222740	-	-
	rs267606947	Likely pathogenic	Neu-Laxova syndrome 1 [MedGen:C4551478,OMIM:256520]; Phosphoglycerate dehydrogenase deficiency [MedGen:C1866174,OMIM:601815]
	rs267606947	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
	rs267606949	Disease	Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
	rs267607076	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
	rs28941786	Disease	Cystathioninuria (CSTNU) [MIM:219500]
	rs371260220	-	-
	rs3733890	-	-
	rs373782713	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs397515551	Pathogenic	Snyder Robinson syndrome [MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063]
	rs397515552	Pathogenic	Snyder Robinson syndrome [MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063]
	rs555959266	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs56709544	-	-
	rs587777775	Pathogenic	Neu-Laxova syndrome 1 [MedGen:C4551478,OMIM:256520]
	rs72558181	Pathogenic	Hepatic methionine adenosyltransferase deficiency [MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009]; not provided [MedGen:CN517202]
	rs749670133	-	-
	rs749758704	-	-
	rs755052126	-	-
	rs755106884	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs755952006	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs758236584	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs758916006	-	-
	rs760214620	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs761647392	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs762065361	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs763764381	-	-
	rs763835246	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs764303638	-	-
	rs765582096	-	-
	rs765882602	-	-
	rs766480924	-	-
	rs768158086	-	-
	rs771011269	-	-
	rs771298943	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs773734233	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs774423823	-	-
	rs777019739	-	-
	rs777459947	-	-
	rs777954556	Disease	Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
	rs779270933	Disease	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
	rs780172339	-	-
	rs780634137	-	-
	rs781266642	-	-
	rs781510366	-	-
	rs781739244	-	-
	rs782308462	Disease	Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
	rs886037776	Pathogenic	Autism spectrum disorder [MedGen:C1510586,Orphanet:ORPHA106]; Chromosome 9q deletion syndrome [MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494]
hsa00280		Valine, leucine and isoleucine degradation
dbSNP		Type	Disease name
	-	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	-	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	-	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs1014048269	-	-
	rs1025180934	-	-
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057516564	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs1114167288	Pathogenic	Beta-hydroxyisobutyryl-CoA deacylase deficiency [MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002]
	rs120074140	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074141	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074144	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs120074146	-	-
	rs120074146	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074147	-	-
	rs120074147	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs120074148	Pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]
	rs1202368985	-	-
	rs121434275	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434278	-	-
	rs121434278	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434279	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434281	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434283	Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
	rs121434578	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs121434636	Pathogenic	3-Methylglutaconic aciduria type 1 [MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046]
	rs121909301	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs121918329	Disease	3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
	rs121964988	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964997	Pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]; not provided [MedGen:CN517202]
	rs1220952473	-	-
	rs122461163	Pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs1265872256	-	-
	rs1289541397	-	-
	rs1327401976	Disease	Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
	rs1330753702	-	-
	rs1330995774	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs1357271377	Unclassified	A colorectal cancer sample
	rs1357942068	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs137852640	Pathogenic	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701]
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs141786030	Polymorphism	-
	rs1420321267	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs145889928	-	-
	rs1462472677	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs1467808566	-	-
	rs1467902610	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs148639841	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs149229670	-	-
	rs1553132209	Pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs1553499757	Likely pathogenic	Beta-hydroxyisobutyryl-CoA deacylase deficiency [MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002]
	rs182923857	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
	rs191644614	-	-
	rs199524907	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs199587895	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs200030276	Likely pathogenic	3-Methylglutaconic aciduria type 1 [MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046]
	rs200189529	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs200207185	-	-
	rs200955062	-	-
	rs202015012	-	-
	rs28935475	Pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs28935476	Pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs35128788	-	-
	rs367938014	-	-
	rs368127499	-	-
	rs368688262	-	-
	rs371807385	-	-
	rs371834662	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs377316171	-	-
	rs387906755	Pathogenic	3-Methylglutaconic aciduria type 1 [MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046]; not provided [MedGen:CN517202]
	rs387906756	Pathogenic	3-Methylglutaconic aciduria type 1 [MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046]
	rs398123503	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
	rs398123675	Pathogenic	Maple syrup urine disease [MeSH:D008375,MedGen:C0024776,OMIM:248600,Orphanet:ORPHA511,SNOMED CT:27718001]
	rs540242322	-	-
	rs561279065	-	-
	rs56199635	Polymorphism	-
	rs62626305	Pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs727503963	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs74428123	-	-
	rs748303093	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs748337518	-	-
	rs748725086	-	-
	rs753816946	-	-
	rs755255464	-	-
	rs760106433	Disease	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
	rs764039230	-	-
	rs765198174	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs765582096	-	-
	rs769688327	Disease	Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
	rs769894315	Disease	3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]
	rs770114459	Pathogenic	Beta-hydroxyisobutyryl-CoA deacylase deficiency [MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002]
	rs770225915	Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase [MedGen:C0268601,OMIM:246450,SNOMED CT:124611007]
	rs773048903	Pathogenic	Maple syrup urine disease [MeSH:D008375,MedGen:C0024776,OMIM:248600,Orphanet:ORPHA511,SNOMED CT:27718001]
	rs773503933	-	-
	rs776400068	-	-
	rs780634137	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs869312125	Pathogenic	Maple syrup urine disease [MeSH:D008375,MedGen:C0024776,OMIM:248600,Orphanet:ORPHA511,SNOMED CT:27718001]
	rs875989867	Pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003]
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs886041122	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
rn00281		Geraniol degradation
dbSNP		Type	Disease name
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1202368985	-	-
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs371834662	-	-
	rs74428123	-	-
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
hsa00290		Valine, leucine and isoleucine biosynthesis
dbSNP		Type	Disease name
	rs1467808566	-	-
	rs765582096	-	-
	rs780634137	-	-
rn00300		Lysine biosynthesis
dbSNP		Type	Disease name
	rs118203916	Pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs1239594775	-	-
	rs181309650	-	-
	rs201835306	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs762922297	-	-
	rs768158086	-	-
	rs773503933	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
hsa00310		Lysine degradation
dbSNP		Type	Disease name
	-	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
	-	Disease	Weaver syndrome (WVS) [MIM:277590]
	-	Unclassified	Mental retardation, autosomal dominant 51 (MRD51) [MIM:617788]
	rs104886492	Unclassified	HDS10 mitochondrial disease (HSD10MD) [MIM:300438]
	rs1057519904	Disease	Glioma (GLM) [MIM:137800]
	rs1057519904	Likely pathogenic	Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
	rs1057519905	Likely pathogenic	Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
	rs1060503430	Likely pathogenic	Weaver syndrome [MedGen:C0265210,OMIM:277590,SNOMED CT:63119004]
	rs1131692184	Likely pathogenic	Weaver syndrome [MedGen:C0265210,OMIM:277590,SNOMED CT:63119004]
	rs118203916	Pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs120074141	Disease	3-ketothiolase deficiency (3KTD) [MIM:203750]
	rs1202368985	-	-
	rs121434578	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs121964988	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964991	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs121964993	Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
	rs1239594775	-	-
	rs1330995774	Pathogenic	Gamma-aminobutyric acid transaminase deficiency [MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007]
	rs137852727	Pathogenic	Chromosome 9q deletion syndrome [MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494]
	rs137853096	Disease	D-bifunctional protein deficiency (DBPD) [MIM:261515]
	rs137853101	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs137853102	Disease	3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
	rs140332014	-	-
	rs1422752351	Pathogenic/Likely pathogenic	Kabuki syndrome [MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007]; Kabuki syndrome 1 [MedGen:CN030661,OMIM:147920]
	rs145712373	-	-
	rs1478147351	Unclassified	Leukemia, acute lymphoblastic (ALL) [MIM:613065]
	rs150321966	Pathogenic/Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]; not provided [MedGen:CN517202]
	rs1555028104	Pathogenic	MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 [MedGen:C4540474,OMIM:617788]
	rs1740231	Polymorphism	-
	rs181309650	-	-
	rs189221845	-	-
	rs193921147	Disease	Weaver syndrome (WVS) [MIM:277590]
	rs200207185	-	-
	rs201215666	-	-
	rs201563672	-	-
	rs201626990	-	-
	rs201835306	-	-
	rs201865375	-	-
	rs201865375	Pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs202015012	-	-
	rs202071047	-	-
	rs202107611	-	-
	rs202168145	-	-
	rs202214913	-	-
	rs267601394	Polymorphism	-
	rs267601394	Likely pathogenic	Lymphoma [Human Phenotype Ontology:HP:0002665,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]
	rs267601395	Polymorphism	-
	rs267601395	Likely pathogenic	Lymphoma [Human Phenotype Ontology:HP:0002665,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]
	rs367902441	-	-
	rs371582393	Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs371807385	-	-
	rs371834662	-	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs375032130	Pathogenic/Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]; not provided [MedGen:CN517202]
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs575069462	-	-
	rs587783625	Unclassified	Weaver syndrome (WVS) [MIM:277590]
	rs587783700	Likely pathogenic	Kabuki syndrome 1 [MedGen:CN030661,OMIM:147920]
	rs587783702	Likely pathogenic	Kabuki syndrome 1 [MedGen:CN030661,OMIM:147920]
	rs587784160	Pathogenic	Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]
	rs587784171	Pathogenic/Likely pathogenic	Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]; not provided [MedGen:CN517202]
	rs587784176	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
	rs587784176	Pathogenic	Beckwith-Wiedemann syndrome [MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002]; Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]; not provided [MedGen:CN517202]
	rs587784177	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
	rs587784177	Pathogenic/Likely pathogenic	Delayed gross motor development [Human Phenotype Ontology:HP:0002194,MedGen:C1837658]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,MedGen:C0454644]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,MedGen:C0454644]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; High anterior hairline [Human Phenotype Ontology:HP:0009890,MedGen:C3276036]; High forehead [Human Phenotype Ontology:HP:0000348,MedGen:C0239676]; Hypertelorism [Human Phenotype Ontology:HP:0000316,MedGen:C0020534,OMIM:145400]; Hypoplasia of the corpus callosum [Human Phenotype Ontology:HP:0002079,MedGen:C0344482]; Increased body weight [Human Phenotype Ontology:HP:0004324,MedGen:C0043094]; Macrocephalus [Human Phenotype Ontology:HP:0000256,MedGen:C3806412,OMIM:248000]; Osteopenia [Human Phenotype Ontology:HP:0000938,MedGen:C0029453]; Overgrowth [Human Phenotype Ontology:HP:0001548,MedGen:C1849265]; Pointed chin [Human Phenotype Ontology:HP:0000307,MedGen:C1844505]; Preeclampsia [Gene:5177,Human Phenotype Ontology:HP:0100602,MedGen:C0032914,OMIM:189800,Orphanet:ORPHA275555]; Scoliosis [Human Phenotype Ontology:HP:0002650,MedGen:C0036439]; Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]; Tall stature [Human Phenotype Ontology:HP:0000098,MedGen:C0241240]; not provided [MedGen:CN517202]
	rs587784178	Pathogenic	Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]
	rs74428123	-	-
	rs745423719	-	-
	rs748303093	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase [MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007]; not provided [MedGen:CN517202]
	rs748725086	-	-
	rs7520453	-	-
	rs753816946	-	-
	rs758723288	Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [MedGen:C4225391,OMIM:616277]
	rs758809828	-	-
	rs759251420	-	-
	rs759307844	-	-
	rs762922297	-	-
	rs768158086	-	-
	rs770911084	-	-
	rs773503933	-	-
	rs776400068	-	-
	rs797045825	Disease	Sotos syndrome 1 (SOTOS1) [MIM:117550]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs886037776	Pathogenic	Autism spectrum disorder [MedGen:C1510586,Orphanet:ORPHA106]; Chromosome 9q deletion syndrome [MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494]
	rs886037927	Likely pathogenic	2-methyl-3-hydroxybutyric aciduria [MedGen:C3266731,OMIM:300438]
	rs886041219	Pathogenic	Sotos syndrome 1 [MedGen:C4551477,OMIM:117550]; not provided [MedGen:CN517202]
hsa00330		Arginine and proline metabolism
dbSNP		Type	Disease name
	-	Disease	Argininemia (ARGIN) [MIM:207800]
	-	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs104893943	Disease	Argininemia (ARGIN) [MIM:207800]
	rs104893947	Pathogenic	Arginase deficiency [MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004]; not provided [MedGen:CN517202]
	rs104894694	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs113576450	-	-
	rs1210644702	-	-
	rs121434583	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
	rs121909272	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs1235382146	-	-
	rs1239594775	-	-
	rs1345105436	-	-
	rs1371496558	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1373919219	-	-
	rs137852937	Disease	Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
	rs138207257	Disease	Hyperoxaluria primary 3 (HP3) [MIM:613616]
	rs13894	Polymorphism	-
	rs140778208	Polymorphism	-
	rs141292408	-	-
	rs142814307	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs143550642	-	-
	rs1441030187	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1447665588	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs1453838176	-	-
	rs1467790706	-	-
	rs150338273	Polymorphism	-
	rs189919790	-	-
	rs192178446	-	-
	rs192820773	-	-
	rs200529020	Likely pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs200833152	Polymorphism	-
	rs201023253	-	-
	rs201835306	-	-
	rs267607076	Disease	X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
	rs370421531	Pathogenic	Cerebral creatine deficiency syndrome [MedGen:CN227588,Orphanet:ORPHA79172]; Deficiency of guanidinoacetate methyltransferase [MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003]; not provided [MedGen:CN517202]
	rs372027428	Polymorphism	-
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs373239891	-	-
	rs376921959	-	-
	rs376982466	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs377578020	Disease	Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
	rs397514708	Pathogenic	Arginine:glycine amidinotransferase deficiency [MedGen:C2675179,OMIM:612718,Orphanet:ORPHA35704]
	rs397515551	Pathogenic	Snyder Robinson syndrome [MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063]
	rs397515552	Pathogenic	Snyder Robinson syndrome [MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063]
	rs537043237	Likely pathogenic	Cutis laxa-corneal clouding-oligophrenia syndrome [MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009]
	rs556400964	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs565428059	-	-
	rs565509522	-	-
	rs745614904	-	-
	rs746419489	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs747608698	-	-
	rs749670133	-	-
	rs752669339	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
	rs754049561	-	-
	rs756168752	-	-
	rs756489804	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs757697327	-	-
	rs758595075	Pathogenic	Leukodystrophy, hypomyelinating, 10 [MedGen:C4225332,OMIM:616420]
	rs759180800	-	-
	rs761254332	-	-
	rs761288637	-	-
	rs761363806	-	-
	rs761372150	-	-
	rs762271422	Likely pathogenic	Spastic paraplegia 5A [MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986]
	rs762601763	-	-
	rs762922297	-	-
	rs763764381	-	-
	rs763887405	-	-
	rs764145947	-	-
	rs764224799	-	-
	rs765070826	-	-
	rs766264810	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
	rs766553422	-	-
	rs770442555	-	-
	rs770665220	-	-
	rs773503933	-	-
	rs774047299	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
	rs774144200	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs796052088	Pathogenic	Primary hyperoxaluria, type III [MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600]
	rs80338734	Disease	Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs869320690	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
	rs886037933	Pathogenic	Leukodystrophy, hypomyelinating, 10 [MedGen:C4225332,OMIM:616420]
	rs886054247	Likely pathogenic	Deficiency of guanidinoacetate methyltransferase [MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003]
	rs900794676	-	-
	rs923744167	-	-
rn00332		Carbapenem biosynthesis
dbSNP		Type	Disease name
	rs121434583	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
	rs141292408	-	-
	rs373239891	-	-
	rs537043237	Likely pathogenic	Cutis laxa-corneal clouding-oligophrenia syndrome [MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009]
	rs745614904	-	-
	rs752669339	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
	rs756168752	-	-
	rs762271422	Likely pathogenic	Spastic paraplegia 5A [MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986]
	rs764145947	-	-
	rs766264810	Disease	Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
	rs770442555	-	-
	rs774047299	Disease	Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
	rs869320690	Disease	Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
hsa00340		Histidine metabolism
dbSNP		Type	Disease name
	-	Disease	Canavan disease (CAND) [MIM:271900]
	-	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	rs1014551540	Disease	Canavan disease (CAND) [MIM:271900]
	rs104894550	Disease	Canavan disease (CAND) [MIM:271900]
	rs104894551	Disease	Canavan disease (CAND) [MIM:271900]
	rs104894553	-	-
	rs104894553	Likely pathogenic	Canavan disease, mild [MedGen:C4017127]; Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
	rs1057516995	Disease	Canavan disease (CAND) [MIM:271900]
	rs115638369	-	-
	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202]
	rs121912711	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs12948217	Pathogenic	Canavan Disease, Familial Form [MedGen:C0751663]; Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]; not provided [MedGen:CN517202]
	rs137853207	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]
	rs137853208	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]
	rs137853209	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]
	rs137853210	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]
	rs137853212	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]
	rs1414684396	Disease	Canavan disease (CAND) [MIM:271900]
	rs142034862	-	-
	rs144106544	-	-
	rs1446467099	Disease	Canavan disease (CAND) [MIM:271900]
	rs1454273149	-	-
	rs147763700	Likely pathogenic	Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
	rs148563375	-	-
	rs192178446	-	-
	rs200600524	-	-
	rs201907439	-	-
	rs28940279	Disease	Canavan disease (CAND) [MIM:271900]
	rs372660425	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]; not provided [MedGen:CN517202]
	rs374724805	Pathogenic	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [MedGen:C0268609,OMIM:229100,Orphanet:ORPHA51208,SNOMED CT:59761008]
	rs375736464	Likely pathogenic	Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
	rs375990689	-	-
	rs376854191	Polymorphism	-
	rs547918064	-	-
	rs561027881	-	-
	rs61755740	-	-
	rs758252808	Disease	Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
	rs761288637	-	-
	rs762601763	-	-
	rs763959573	-	-
	rs770706390	Disease	Canavan disease (CAND) [MIM:271900]
	rs771317809	Pathogenic/Likely pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]; not provided [MedGen:CN517202]
	rs773049803	Disease	Canavan disease (CAND) [MIM:271900]
	rs773503933	-	-
	rs774323189	Disease	Canavan disease (CAND) [MIM:271900]
	rs776777887	Disease	Canavan disease (CAND) [MIM:271900]
	rs781387185	-	-
	rs864622558	Pathogenic	Pyridoxine-dependent epilepsy [MedGen:C1849508,OMIM:266100,Orphanet:ORPHA3006]
	rs900794676	-	-
	rs937670540	Disease	Canavan disease (CAND) [MIM:271900]
hsa00350		Tyrosine metabolism
dbSNP		Type	Disease name
	-	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	-	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	-	Disease	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
	rs1041969	Polymorphism	-
	rs1126673	-	-
	rs115638369	-	-
	rs118203916	Pathogenic	Tyrosinemia type 2 [MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378]
	rs118203982	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency [MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000]; not provided [MedGen:CN517202]
	rs121965074	Likely pathogenic	Tyrosinemia type I [MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006]
	rs1229984	Polymorphism	-
	rs1260079066	-	-
	rs1326526453	-	-
	rs1326526453	Disease	Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
	rs13306279	-	-
	rs13306303	-	-
	rs137852865	Disease	Tyrosinemia 3 (TYRSN3) [MIM:276710]
	rs137853207	Pathogenic	Deficiency of aromatic-L-amino-acid decarboxylase [MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004]