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
RS2536641925 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536641944 CNTNAP2 Health Risk Likely pathogenic —
RS2536642169 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536642250 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536642299 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536642495 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536643440 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS2536643466 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536643678 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536643898 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536645625 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536645729 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536645862 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536646048 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536646331 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536646361 FLNC Health Risk Likely pathogenic Disorder of cardiovascular system, Disorder of cardiovascular system
RS2536646486 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536646677 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536646733 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536647857 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2536648236 FLNC Health Risk Pathogenic Cardiomyopathy, Cardiovascular phenotype
RS2536648602 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536648913 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536649067 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536649091 FLNC Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS2536649820 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS2536650493 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536650638 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536650858 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536653154 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536654502 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS2536654806 FLNC Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2536656240 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536656290 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2536656445 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536656549 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2536656862 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2536657694 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 30
RS2536658893 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536659191 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536659308 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536659320 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536659923 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536659978 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2536660071 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536660619 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536661967 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536662140 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536662182 FLNC Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2536662298 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536662367 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536663470 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536663696 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536663719 FLNC Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia, familial
RS2536664039 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536664215 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536664620 EMC1 Health Risk Likely pathogenic —
RS2536664709 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2536664725 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS2536664747 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536664763 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536665014 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536665068 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS2536665228 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536665281 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS2536665417 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2536665807 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536666629 EMC1 Health Risk Likely pathogenic —
RS2536666918 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536668310 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2536669498 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536669631 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS2536669667 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536669715 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536669790 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536669819 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536670148 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536670455 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2536670480 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS2536670609 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536671106 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536671430 FLNC Health Risk Likely pathogenic —
RS2536673906 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Myofibrillar myopathy 5
RS2536674321 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536678715 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536679099 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536680003 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536680046 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS2536680113 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536680543 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2536682049 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536682304 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2536682381 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536682811 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536684326 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536685226 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536688599 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536691711 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536697565 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2536700554 JPH1 Health Risk Likely pathogenic Congenital myopathy 25, Congenital myopathy
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