SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1347860599 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1347868577 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1347877363 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1347906047 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1347908694 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS1347914291 MAK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Isolated macular dystrophy
RS1347958848 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS1348011365 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1348031618 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1348039836 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1348057473 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1348061804 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1348062671 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1348127604 COQ2 Health Risk Likely pathogenic —
RS1348129244 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1348149236 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1348162749 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1348174898 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1348176225 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS1348187150 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1348188346 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1348189028 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1348196809 SPINT2 Health Risk Pathogenic/Likely pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS1348218790 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1348270931 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1348285195 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS1348290958 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1348307652 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1348340748 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1348341976 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1348362674 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS1348367722 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1348376140 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1348383754 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1348398121 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1348401845 ITGB3 Health Risk Pathogenic —
RS1348407784 GEMIN5 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS1348411642 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS1348457314 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1348467293 GUCY2D Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Leber congenital amaurosis 1
RS1348473206 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1348476527 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1348479617 SLC25A36 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1348488525 TRIM37 Health Risk Pathogenic —
RS1348504554 HSD17B10 Health Risk Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS1348505504 GIPC3 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1348578241 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1348586850 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS1348587218 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1348591614 RP1 Health Risk Pathogenic —
RS1348603148 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1348606984 ABCB4 Health Risk Pathogenic —
RS1348610360 ABCB4 Health Risk Pathogenic Familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1348620586 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1348641548 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1348650457 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1348655194 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1348701377 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1348704826 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1348713109 EIF2AK1 Health Risk Conflicting classifications of pathogenicity —
RS1348730180 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS1348741432 KCNMA1 Health Risk Likely pathogenic Cerebellar atrophy, developmental delay
RS1348742926 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1348745245 ZNF469 Health Risk Pathogenic —
RS1348813250 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1348835311 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1348836250 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1348880848 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1348892740 NOTCH1 Health Risk Pathogenic Inborn genetic diseases, Adams-Oliver syndrome 5
RS1348913197 EMC1 Health Risk Pathogenic —
RS1348922417 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS1348932780 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1348949389 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1348956744 MSH6 Health Risk Likely pathogenic Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS1348957889 NDUFA11 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 14
RS1348974766 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1348982172 CNGB3 Health Risk Likely pathogenic —
RS1348990547 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS1349001113 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1349009265 TCF12 Health Risk Conflicting classifications of pathogenicity TCF12-related craniosynostosis, TCF12-related disorder
RS1349024125 CUX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Global developmental delay with or without impaired intellectual development
RS1349031936 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5
RS1349032508 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1349048226 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1349048266 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS1349052942 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS1349064845 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1349083504 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1349089552 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1349103905 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cockayne syndrome type 2
RS1349107308 SIX3 Health Risk Likely pathogenic —
RS1349144376 KCNJ11 Health Risk Pathogenic —
RS1349155167 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1349199518 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS1349202366 PCCB Health Risk Likely pathogenic Propionic acidemia, PCCB-related disorder
RS1349215930 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1349222819 USH2A Health Risk Likely pathogenic —
RS1349223430 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1349250538 FOXP2 Health Risk Likely pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS1349262257 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
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