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
RS2470229058 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229117 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229147 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229179 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229621 SPP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2470229842 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229906 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229911 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470230045 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470230145 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470230328 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470230339 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470236560 SLC6A1 Health Risk Likely pathogenic —
RS2470236698 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470236742 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2470237214 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470237325 SLC6A1 Health Risk Likely pathogenic SLC6A1-related disorder, SLC6A1-related disorder
RS2470237973 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470238559 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470239589 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470240189 SLC6A1 Health Risk Conflicting classifications of pathogenicity SLC6A1-related disorder, Epilepsy with myoclonic atonic seizures
RS2470249846 SLC6A1 Health Risk Likely pathogenic —
RS2470251336 XPC Health Risk Pathogenic —
RS2470251738 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470251809 XPC Health Risk Pathogenic —
RS2470256704 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470256823 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470256831 XPC Health Risk Pathogenic —
RS2470256902 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470257742 XPC Health Risk Pathogenic —
RS2470257898 XPC Health Risk Pathogenic —
RS2470257940 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470258015 XPC Health Risk Pathogenic —
RS2470258125 XPC Health Risk Pathogenic —
RS2470258845 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
RS2470258893 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS2470258906 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470259450 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470259784 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470261046 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470261172 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470261221 XPC Health Risk Pathogenic —
RS2470261796 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470263294 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470263512 SLC6A1 Health Risk Pathogenic —
RS2470263679 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470263712 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470263924 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2470264146 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS2470264356 SLC6A1 Health Risk Likely pathogenic —
RS2470264425 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470270420 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470270703 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470271582 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2470272284 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470272884 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470273914 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS2470276333 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470278321 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470278370 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470278474 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470278600 XPC Health Risk Pathogenic —
RS2470278780 XPC Health Risk Pathogenic —
RS2470278796 XPC Health Risk Likely pathogenic —
RS2470280552 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470281037 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470282013 ATP2B2 Health Risk Pathogenic —
RS2470282949 ATP2B2 Health Risk Pathogenic —
RS2470287266 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470292240 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470295556 XPC Health Risk Pathogenic —
RS2470295662 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470296169 XPC Health Risk Likely pathogenic —
RS2470299614 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470299695 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470301204 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470301384 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS2470301392 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470301479 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470303448 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470303543 XPC Health Risk Pathogenic —
RS2470304057 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS2470304928 XPC Health Risk Likely pathogenic —
RS2470308961 GLS Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 71
RS2470309265 GLS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2470312288 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2470312297 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470312303 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470312717 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2470312725 WNT10A Health Risk Pathogenic WNT10A-related disorder, WNT10A-related disorder
RS2470312895 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470313345 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2470314219 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470316507 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470316880 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470317158 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS2470320911 XPC Health Risk Pathogenic —
RS2470325660 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
RS2470328344 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470328795 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
« Prev 1 ... 2024 2025 2026 2027 2028 2029 2030 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →