Variants on interaction residues (Swissprot Humsavar, NCBI Clinvar and Tommo 8.3kJPN)

KEGG pathway Name
hsa00010 Glycolysis / Gluconeogenesis
dbSNP Type Disease name
-
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
-
Likely pathogenic Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
-
Likely pathogenic Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
-
Likely pathogenic Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
-
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
-
Pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
-
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
-
Pathogenic/Likely pathogenic not provided|Pyruvate kinase deficiency of red cells [MedGen:C3661900|MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766]
-
LP/P Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
-
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
-
LP/P Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
-
Likely pathogenic Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
-
Pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [MONDO:MONDO:0013047,MedGen:C2931743,OMIM:612933,Orphanet:284426]
-
Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency [MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765]
-
LP/P Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
-
LP/P Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
-
Likely pathogenic Isolated microphthalmia 8 [MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
.
- -
rs1018955701
- -
rs1041969
LB/B -
rs104894009
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104894015
LP/P Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485]
rs1064794848
LP/P Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
rs1064794848
Pathogenic/Likely pathogenic not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]
rs1064795154
LP/P Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
rs1126673
- -
rs1131691416
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1131691416
Pathogenic/Likely pathogenic not provided|Maturity-onset diabetes of the young type 2|Type 2 diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
rs115638369
- -
rs1167329263
- -
rs1167329263
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
rs1168600424
- -
rs1170817007
Pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs118204083
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
rs118204089
Pathogenic Pyruvate kinase deficiency of red cells [MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766]
rs121909534
Pathogenic HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
rs121912707
Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy|not provided|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0020741,MedGen:CN293409]
rs121912711
Pathogenic Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
rs121918189
- -
rs121918189
Pathogenic Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
rs121918190
Pathogenic Fructose-biphosphatase deficiency [MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
rs121964925
LP/P Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
rs121964988
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964991
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1227427396
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
rs1229984
LB/B -
rs1239029841
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
rs1256830271
- -
rs1272572107
Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs1272792336
- -
rs1280636156
- -
rs1286804191
LP/P Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
rs1301021797
LP/P Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
rs1311982393
Pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs1320810473
LP/P Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
rs1331843613
- -
rs1332966015
Pathogenic not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1348837644
- -
rs1360415315
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1360415315
Pathogenic not provided|Maturity-onset diabetes of the young type 2|Hyperinsulinism due to glucokinase deficiency [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Type 2 diabetes mellitus|Maturity onset diabetes mellitus in young|Monogenic diabetes [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs1375656631
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs137852530
LB/B -
rs137852533
LP/P Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
rs137852539
Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713]
rs137853258
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs137853582
- -
rs138887023
- -
rs138893744
Pathogenic Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
rs139273956
- -
rs140960775
- -
rs141315355
- -
rs141623265
- -
rs143485300
- -
rs1441649062
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs144723656
Pathogenic Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:CN517202]
rs144723656
Pathogenic/Likely pathogenic not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs144739734
- -
rs146153216
- -
rs146556418
- -
rs1470521850
Pathogenic Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
rs147065275
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1471862905
- -
rs1476637197
Pathogenic Maturity-onset diabetes of the young type 2|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs148311934
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148311934
Pathogenic Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Permanent neonatal diabetes mellitus 1|Monogenic diabetes [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs1490487177
- -
rs149408684
- -
rs150526754
- -
rs150939574
- -
rs1554334872
Likely pathogenic Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1554334905
Likely pathogenic not specified|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1554335132
Pathogenic not specified|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:CN169374|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs1554335135
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1554335135
Pathogenic/Likely pathogenic not provided|Maturity onset diabetes mellitus in young [MedGen:CN517202|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1554335761
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1555933963
Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MedGen:C3661900|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
rs1562711915
Pathogenic not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1562715426
Pathogenic not provided|Maturity onset diabetes mellitus in young [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1562717053
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1562717053
Pathogenic not provided|Maturity-onset diabetes of the young type 2 [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Permanent neonatal diabetes mellitus 1 [MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes|Maturity onset diabetes mellitus in young [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1564557037
LP/P Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
rs1564557037
Likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953]
rs1583591303
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1583599303
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1583599303
Pathogenic/Likely pathogenic/Likely risk allele not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs1750309299
Pathogenic not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs1750388096
Likely pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs17853396
LB/B -
rs1831150965
Likely pathogenic Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
rs184074326
- -
rs184618766
- -
rs193922272
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922281
Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2|not provided|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs193922282
Likely pathogenic Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
rs193922282
LP/P Diabetes mellitus, permanent neonatal, 1 (PNDM1) [MIM:606176]
rs193922290
Likely pathogenic/Likely risk allele Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs193922297
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922311
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922319
Likely pathogenic Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs193922327
Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900]
rs199624420
- -
rs200000745
- -
rs200196486
- -
rs200244541
- -
rs200544560
- -
rs200556774
- -
rs200969445
Pathogenic Oligosynaptic infertility|Azoospermia|Spermatogenic failure 70 [MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150,Orphanet:217034|Human Phenotype Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509|MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828]
rs201321507
- -
rs201745983
- -
rs201934016
- -
rs201948406
Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy|not provided|Inborn genetic diseases [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
rs202226446
- -
rs2032247686
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs2032282970
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs2063174067
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs2063189233
Pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2063213272
Pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2066702
LB/B -
rs2096273902
Likely pathogenic not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs2096280050
US Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs2096281827
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs2118343224
Pathogenic Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
rs2128820597
Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2|Monogenic diabetes|not provided [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900]
rs2128821509
Likely pathogenic Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
rs2135856711
Pathogenic Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
rs2147176072
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147178249
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147180839
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147180851
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147184502
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2151019295
Pathogenic/Likely pathogenic HNSHA due to aldolase A deficiency [MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57]
rs2458502
- -
rs28359542
LB/B -
rs28383586
LB/B -
rs284797
- -
rs28730628
LB/B -
rs35229514
- -
rs35385902
LB/B -
rs367861880
- -
rs371767574
- -
rs371807385
- -
rs372660425
Pathogenic Pyridoxine-dependent epilepsy|not provided [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900]
rs374118874
- -
rs376093116
- -
rs376297762
- -
rs376690171
- -
rs377699817
- -
rs398122379
LP/P Hexokinase deficiency (HK deficiency) [MIM:235700]
rs539728659
- -
rs541509845
- -
rs545372800
- -
rs546847108
- -
rs547918064
- -
rs547918064
Likely pathogenic not provided|Isolated microphthalmia 8 [MedGen:C3661900|MONDO:MONDO:0014050,MedGen:C3554524,OMIM:615113,Orphanet:2542]
rs555935217
- -
rs56251804
- -
rs566453434
Pathogenic/Likely pathogenic not provided|Fructose-biphosphatase deficiency [MedGen:C3661900|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
rs573040804
- -
rs587780346
Pathogenic/Likely pathogenic Gestational diabetes|not provided|Monogenic diabetes|Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0009800,MONDO:MONDO:0005406,MedGen:C0085207|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs671
- -
rs671
LP/P AMED syndrome, digenic (AMEDS) [MIM:619151]
rs74451421
- -
rs746913146
Pathogenic not provided|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs747097960
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
rs747209153
- -
rs747837917
- -
rs747971446
- -
rs748408705
- -
rs748682601
Pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs748947397
- -
rs750026492
Pathogenic/Likely pathogenic Hereditary fructosuria [Human Phenotype Ontology:HP:0005973,MONDO:MONDO:0009249,MedGen:C0016751,OMIM:229600,Orphanet:469]
rs750389182
- -
rs750660594
- -
rs751972865
LP/P Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]
rs752807581
- -
rs753407393
- -
rs754185312
- -
rs754994587
- -
rs755461904
- -
rs755761896
- -
rs756704521
- -
rs757087726
Pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs757746489
- -
rs757985056
- -
rs758609113
Pathogenic/Likely pathogenic not provided|Fructose-biphosphatase deficiency [MedGen:CN517202|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348]
rs758737171
LP/P Hyperinsulinemic hypoglycemia, familial, 3 (HHF3) [MIM:602485]
rs75967634
- -
rs759725155
- -
rs759933654
- -
rs760185950
- -
rs760379773
- -
rs760971491
- -
rs761042153
- -
rs761295869
Likely pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs762200045
- -
rs763392896
- -
rs767632371
- -
rs768176085
- -
rs768361068
- -
rs768697532
- -
rs769268803
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs769268803
Pathogenic not provided|Permanent neonatal diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885]; Hyperinsulinism due to glucokinase deficiency [MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299]; Maturity-onset diabetes of the young type 2 [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]; Type 2 diabetes mellitus|Maturity-onset diabetes of the young type 2 [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552]
rs769512330
- -
rs769724893
LB/B -
rs769763635
- -
rs769879612
- -
rs770231054
Likely pathogenic Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
rs770331582
- -
rs770807520
- -
rs771107373
- -
rs772238965
- -
rs772754004
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs773503933
- -
rs775111586
- -
rs775156542
- -
rs776400068
- -
rs776421832
- -
rs777019739
- -
rs777954556
LP/P Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
rs779006912
- -
rs779314973
- -
rs779828856
- -
rs780442649
- -
rs780715532
- -
rs781110394
- -
rs781222092
Pathogenic Deficiency of bisphosphoglycerate mutase [MONDO:MONDO:0009113,MedGen:C1291620,OMIM:222800,Orphanet:714]
rs781507152
- -
rs794727839
Likely pathogenic not provided|Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young|Monogenic diabetes|not specified [MedGen:C3661900|MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374]
rs796052271
Pathogenic not provided|Pyridoxine-dependent epilepsy [MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs80356655
LP/P Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs80356655
Pathogenic Maturity-onset diabetes of the young type 2|not provided|Permanent neonatal diabetes mellitus 1|Maturity onset diabetes mellitus in young|Type 2 diabetes mellitus|Hyperinsulinism due to glucokinase deficiency|Monogenic diabetes [MONDO:MONDO:0007453,MedGen:C0342277,OMIM:125851,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0100165,MedGen:C5393570,OMIM:606176|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0011236,MedGen:C1865290,OMIM:602485,Orphanet:79299|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
rs863224149
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs863224150
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
rs864622558
Pathogenic Pyridoxine-dependent epilepsy [MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006]
rs866904446
Pathogenic/Likely pathogenic Glycogen storage disease, type VII [MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371]
rs981505482
LP/P Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
hsa00020 Citrate cycle (TCA cycle)
dbSNP Type Disease name
-
Pathogenic Paragangliomas 1 [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072]
-
Pathogenic Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
-
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
-
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
-
Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency [MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765]
.
- -
rs1040177874
- -
rs104894302
Pathogenic Paragangliomas 1|Hereditary cancer-predisposing syndrome|Paragangliomas with sensorineural hearing loss [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C1868633]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]
rs1057519736
LB/B -
rs1057519736
Pathogenic; risk factor Acute myeloid leukemia|Acute myocardial infarction [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0004781,MedGen:C0155626]
rs1057519906
LB/B -
rs1057519906
LP/P Glioma (GLM) [MIM:137800]
rs1057519906
Likely pathogenic; risk factor Neoplasm of the large intestine|Neoplasm of brain|Brainstem glioma|Acute myeloid leukemia|Hepatocellular carcinoma|Acute myocardial infarction [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0004781,MedGen:C0155626]
rs1060503769
Pathogenic Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Paragangliomas with sensorineural hearing loss|Hereditary cancer-predisposing syndrome [MedGen:C1868633|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
rs1131691065
Pathogenic Hereditary cancer-predisposing syndrome|Pheochromocytoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Paragangliomas with sensorineural hearing loss [MedGen:C1868633]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Carney-Stratakis syndrome|Mitochondrial complex 2 deficiency, nuclear type 3 [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167]
rs1200905118
- -
rs1213395414
- -
rs121913499
US Colorectal cancer
rs121913499
Pathogenic/Likely pathogenic Lung adenocarcinoma|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Astrocytoma|Medulloblastoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Multiple myeloma|Prostate adenocarcinoma|Brainstem glioma|Glioblastoma|Myelodysplastic syndrome|Acute myeloid leukemia|Adenoid cystic carcinoma|not provided|Enchondromatosis|Enchondromatosis [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:C3661900|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296]; Maffucci syndrome|Glioma susceptibility 1|Maffucci syndrome [MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MONDO:MONDO:0013808,MedGen:C0024454,OMIM:614569,Orphanet:163634]
rs121913500
US A glioma sample
rs121913500
Pathogenic/Likely pathogenic Glioblastoma multiforme, somatic|Transitional cell carcinoma of the bladder|Myelodysplastic syndrome|Medulloblastoma|Malignant melanoma of skin|Hepatocellular carcinoma|Lung adenocarcinoma|Brainstem glioma|Breast neoplasm|Prostate adenocarcinoma|Multiple myeloma|Neoplasm of brain|Acute myeloid leukemia|Oligodendroglioma|Adenoid cystic carcinoma|Neoplasm of the large intestine|Astrocytoma|Glioblastoma|Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria|not provided|Glioma susceptibility 1|Enchondromatosis|Metaphyseal chondromatosis [MedGen:C4016231|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033681,MONDO:MONDO:0016695,MeSH:D009837,MedGen:C0028945,Orphanet:251627|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0009592,MONDO:MONDO:0019781,MeSH:D001254,MedGen:C0004114|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0013941,MedGen:C3553958,OMIM:614875,Orphanet:99646|MedGen:C3661900|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|Human Phenotype Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|]
rs121913502
LP/P D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
rs121913502
Pathogenic/Likely pathogenic D-2-hydroxyglutaric aciduria 2|Squamous cell carcinoma of the head and neck|not provided|Acute myeloid leukemia|Neoplasm of the large intestine|Myelodysplastic syndrome|Multiple myeloma|Inborn genetic diseases [MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MeSH:D030342,MedGen:C0950123]
rs121913503
Pathogenic/Likely pathogenic; risk factor Hepatocellular carcinoma|Acute myeloid leukemia|Neoplasm of the large intestine|Neoplasm of brain|Brainstem glioma|Acute myocardial infarction [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0004781,MedGen:C0155626]
rs121913503
LP/P Glioma (GLM) [MIM:137800]
rs121913503
Pathogenic/Likely pathogenic; risk factor Acute myeloid leukemia|Hepatocellular carcinoma|Neoplasm of brain|Myelodysplastic syndrome|Neoplasm of the large intestine|Brainstem glioma|Acute myocardial infarction [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0004781,MedGen:C0155626]
rs121964988
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964991
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993
LP/P Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1233115152
- -
rs1250941205
- -
rs1252881714
- -
rs1256830271
- -
rs1258494752
LP/P Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs1272572107
Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs1304729997
- -
rs137853258
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs139584437
- -
rs140626260
Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
rs141728876
- -
rs1423978863
Pathogenic Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
rs148890709
- -
rs148943214
- -
rs150561917
- -
rs1555015018
Likely pathogenic Pyruvate carboxylase deficiency [MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008]
rs1555629667
- -
rs1555632876
- -
rs1555933963
Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MedGen:C3661900|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
rs1560992565
Pathogenic Mitochondrial complex II deficiency, nuclear type 1 [MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208]; Paragangliomas 5|Hereditary cancer-predisposing syndrome|Paragangliomas 5 [MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072]
rs1573369925
Pathogenic Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
rs200969445
Pathogenic Oligosynaptic infertility|Azoospermia|Spermatogenic failure 70 [MONDO:MONDO:0009776,MedGen:C0403810,OMIM:258150,Orphanet:217034|Human Phenotype Ontology:HP:0000027,MONDO:MONDO:0100459,MeSH:D053713,MedGen:C0004509|MONDO:MONDO:0030733,MedGen:C5676962,OMIM:619828]
rs2032247686
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs2032282970
Likely pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs2063174067
LP/P Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs2063189233
Pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2063213272
Pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2146127288
Likely pathogenic Infantile cerebellar-retinal degeneration [MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850]
rs2147176072
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147178249
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147180839
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147180851
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs2147184502
Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency [MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs267606870
LP/P D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
rs267607097
LP/P Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
rs267607098
Pathogenic Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
rs267607099
LP/P Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
rs28359542
LB/B -
rs28383586
LB/B -
rs28940589
LP/P Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs28940590
LP/P Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs35494829
- -
rs369153479
Pathogenic Mitochondrial DNA depletion syndrome 9 [MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17]
rs370866394
- -
rs371807385
- -
rs376297762
- -
rs377518755
- -
rs532952188
- -
rs537907558
- -
rs546847108
- -
rs564792232
- -
rs575833641
- -
rs745389409
- -
rs747837917
- -
rs747951792
- -
rs748682601
Pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs753407393
- -
rs753617532
- -
rs755024692
Pathogenic not provided|Optic atrophy 9 [MedGen:C3661900|MONDO:MONDO:0014571,MedGen:C4225384,OMIM:616289]
rs755461904
- -
rs756712426
US Retinitis pigmentosa 90 (RP90) [MIM:619007]
rs757087726
Pathogenic Pyruvate dehydrogenase E3 deficiency [MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765]
rs759846791
- -
rs764832926
- -
rs767061831
Likely pathogenic D-2-hydroxyglutaric aciduria 2 [MONDO:MONDO:0013345,MedGen:C3150909,OMIM:613657,Orphanet:79315]
rs768176085
- -
rs770028533
- -
rs770807520
- -
rs776400068
- -
rs776448754
- -
rs781739244
- -
rs781834702
- -
rs781837455
- -
rs782010539
- -
rs782308462
LP/P Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339]
rs782487022
- -
rs786202403
Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome|Pheochromocytoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Paragangliomas with sensorineural hearing loss [MedGen:C1868633]
rs786205145
Likely pathogenic Carney triad [MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287,Orphanet:139411]
rs80338847
Pathogenic Paragangliomas 1|Hereditary pheochromocytoma-paraganglioma|not provided [MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000,Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:CN517202]
rs80338847
Likely pathogenic Paragangliomas with sensorineural hearing loss [MedGen:C1868633]; Carney-Stratakis syndrome [MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286]; Cowden syndrome 3 [MONDO:MONDO:0014045,MedGen:CN166604,Orphanet:201]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
rs863224149
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243]
rs863224150
Pathogenic not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency [MedGen:C3661900|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243]
rs905092947
- -
hsa00030 Pentose phosphate pathway