Variants on interaction residues

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 Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
-
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]
rs1320810473
Disease Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
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
- -
rs397515423
Pathogenic Congenital disorder of glycosylation type 1t [MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646]
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
- -
rs200544560
- -
rs201450556
- -
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]
-
Disease Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
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]
rs1320810473
Disease Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
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]
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]
rs397515423
Pathogenic Congenital disorder of glycosylation type 1t [MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646]
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
- -
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
- -
rs780868134
- -
rs781200594
- -
rs781376792
- -
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]
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]
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
- -
rs368548274
- -
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
- -
rs772012465
- -
rs772319638
- -
rs77239104
- -
rs772893062
- -
rs773222168
- -
rs773518859
- -
rs773901293
- -
rs774406575
- -
rs775032909
- -
rs775097749
- -
rs775209507
- -
rs775316562
- -
rs775915028
- -
rs776501959
- -
rs778404835
- -
rs780526529
Disease Cystic fibrosis (CF) [MIM:219700]
rs780813956
- -
rs781248889
- -
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]
rs1057521115
Disease Canavan disease (CAND) [MIM:271900]
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
- -
rs1424918525
- -
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
- -
rs750505963
Disease Canavan disease (CAND) [MIM:271900]
rs750670270
Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs750905647
- -
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
- -
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
- -
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]
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
- -
rs1392379976
- -
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 -
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
- -
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]
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]
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]
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 -
rs1392379976
- -
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
- -
rs200833152
Polymorphism -
rs201023253
- -
rs201450556
- -
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
- -
rs374297578
- -
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
- -
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
- -
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]
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]
rs374297578
- -
rs374724805
Pathogenic GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY [MedGen:C0268609,OMIM:229100,Orphanet:ORPHA51208,SNOMED CT:59761008]
rs375477095
- -
rs375736464
Likely pathogenic Spongy degeneration of central nervous system [MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005]
rs375990689
- -
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]
rs777936704
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]
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