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
RS1571939623 KCND3 Health Risk Likely pathogenic Intellectual disability, Seizure
RS1571939827 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571939905 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571941465 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571941511 USH2A Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571941589 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571945476 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571945537 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571946866 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571947757 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571947978 USH2A Health Risk Pathogenic —
RS1571948114 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571948194 USH2A;USH2A-AS2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571949264 USH2A Health Risk Pathogenic —
RS1571949388 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571950208 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571953381 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571953449 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571955307 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571955597 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571957148 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571960363 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571963780 EMC1 Health Risk Likely pathogenic —
RS1571964338 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease perinatal lethal
RS1571965880 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS1571969643 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS1571979607 IRF6 Health Risk Likely pathogenic Orofacial cleft 6, susceptibility to
RS1571979802 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS1571983348 IRF6 Health Risk Likely pathogenic Orofacial cleft 6, susceptibility to
RS1571983440 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Orofacial cleft 6
RS1571986293 IRF6 Health Risk Pathogenic/Likely pathogenic Orofacial cleft 6, susceptibility to
RS1571995707 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1571999498 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 1, Noonan syndrome 8
RS1572001567 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS1572018284 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS1572018886 HAX1 Health Risk Pathogenic/Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS1572019465 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS1572020896 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1572023336 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1572027164 FLVCR1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1572031494 FLVCR1 Health Risk Likely pathogenic —
RS1572033599 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1572035084 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1572035834 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1572036396 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1572038993 CACNA1S Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1572039133 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1572039465 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1572040505 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1572042090 USH2A Health Risk Pathogenic —
RS1572042717 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1572042851 USH2A Health Risk Pathogenic —
RS1572048220 CACNA1S Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1572049461 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1572051012 USH2A Health Risk Pathogenic —
RS1572052376 LDLRAP1 Health Risk Likely pathogenic —
RS1572057140 PKLR Health Risk Pathogenic —
RS1572059904 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1572060087 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1572060089 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1572074292 USH2A Health Risk Pathogenic —
RS1572074313 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1572079834 COQ8A Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS1572081759 COQ8A Health Risk Likely pathogenic —
RS1572086894 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088248 USH2A Health Risk Pathogenic —
RS1572088348 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088481 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1572088737 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088775 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088823 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088837 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088853 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572088865 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572089542 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572090079 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hepatocellular carcinoma
RS1572090173 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572090305 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572090368 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572091783 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572091831 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572092076 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572092099 SERPINC1 Health Risk Pathogenic Deep venous thrombosis, Deep venous thrombosis
RS1572092103 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1572092195 SERPINC1 Health Risk Likely pathogenic —
RS1572096837 KCNT2 Health Risk Likely pathogenic Seizure, Developmental and epileptic encephalopathy
RS1572101517 TRAPPC12 Health Risk Pathogenic —
RS1572110097 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1572112489 ACTN2 Health Risk Likely pathogenic Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA
RS1572119109 SCP2 Health Risk Pathogenic Sterol carrier protein 2 deficiency, Sterol carrier protein 2 deficiency
RS1572139792 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 1
RS1572140109 ACTN2 Health Risk Likely pathogenic Myopathy, distal
RS1572142522 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1572142597 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1572143354 ACTN2 Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Dilated cardiomyopathy 1AA
RS1572146630 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
RS1572148902 ACTN2 Health Risk Pathogenic/Likely pathogenic Myopathy, congenital
RS1572148914 ACTN2 Health Risk Likely pathogenic Myopathy, congenital
RS1572150469 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1572150584 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
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