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
RS2538798060 SLC34A3 Health Risk Likely pathogenic —
RS25388 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2538800930 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2538801722 ZNF462 Health Risk Pathogenic —
RS2538803114 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538803152 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538803372 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538803620 CSGALNACT1 Health Risk Likely pathogenic Skeletal dysplasia, mild
RS2538805414 SLC34A3 Health Risk Likely pathogenic —
RS2538808420 SLC34A3 Health Risk Pathogenic —
RS2538809395 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538809532 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538809700 HPS1 Health Risk Pathogenic —
RS2538810845 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538811120 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538813711 SLC34A3 Health Risk Likely pathogenic —
RS2538815347 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS2538816628 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2538817095 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2538817582 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2538817842 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2538818350 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2538820205 SLC34A3 Health Risk Likely pathogenic —
RS2538820820 SLC34A3 Health Risk Pathogenic —
RS2538827659 TSC1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538829403 TUBB4B Health Risk Pathogenic —
RS2538832622 HPS1 Health Risk Likely pathogenic —
RS2538832752 HPS1 Health Risk Pathogenic —
RS2538832890 CSGALNACT1 Health Risk Pathogenic —
RS2538833105 HPS1 Health Risk Pathogenic —
RS2538833174 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538833403 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2538833621 HPS1 Health Risk Pathogenic —
RS2538834207 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538834370 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538834658 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538835230 PMPCA Health Risk Pathogenic —
RS2538835331 HPS1 Health Risk Likely pathogenic —
RS2538837238 HPS1 Health Risk Likely pathogenic —
RS2538837254 HPS1 Health Risk Pathogenic —
RS2538837526 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538837574 HPS1 Health Risk Pathogenic —
RS2538837971 HPS1 Health Risk Pathogenic —
RS2538838798 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538839145 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538839551 HPS1 Health Risk Pathogenic —
RS2538841647 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538846241 PUF60 Health Risk Pathogenic —
RS2538846534 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538848286 PMPCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS2538851344 PMPCA Health Risk Pathogenic —
RS2538852619 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2538853643 PUF60 Health Risk Likely pathogenic —
RS2538854986 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538855688 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538855696 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538855786 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538857317 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538857600 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538857659 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538860611 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538860667 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538860687 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
RS2538860938 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538860997 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538861070 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538863798 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864019 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864120 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864220 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864296 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864345 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538864425 CHAT Health Risk Likely pathogenic Congenital myasthenic syndrome, Familial infantile myasthenia
RS2538864622 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538865020 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538865859 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538866175 CDK5RAP2 Health Risk Pathogenic —
RS2538867899 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538867968 HR Health Risk Pathogenic —
RS2538869652 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2538869694 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538869723 INPP5E Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2538870734 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538870740 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2538870741 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538870759 INPP5E Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2538870842 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2538871513 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538873045 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS2538875189 HR Health Risk Pathogenic —
RS2538876012 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2538876210 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2538877466 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538877767 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538878393 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2538881198 HR Health Risk Likely pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS2538882277 CDK5RAP2 Health Risk Likely pathogenic —
RS2538884048 HR Health Risk Likely pathogenic HR-related disorder, HR-related disorder
RS2538885807 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, TSC1-related disorder
RS2538886837 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
« Prev 1 ... 2445 2446 2447 2448 2449 2450 2451 ... 4509 Next »

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

Get Started Free →