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
RS2509964271 SLC4A1 Health Risk Likely pathogenic —
RS2509965507 SLC4A1 Health Risk Likely pathogenic SLC4A1-related disorder, SLC4A1-related disorder
RS2509965514 SLC4A1 Health Risk Pathogenic —
RS2509965517 SLC4A1 Health Risk Pathogenic —
RS2509965970 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509966036 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509966235 SLC4A1 Health Risk Likely pathogenic —
RS2509966486 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2509966572 SLC4A1 Health Risk Likely pathogenic SLC4A1-related disorder, SLC4A1-related disorder
RS2509966665 SLC4A1 Health Risk Pathogenic —
RS2509966742 SLC4A1 Health Risk Likely pathogenic —
RS2509967246 SLC4A1 Health Risk Likely pathogenic —
RS2509967323 SLC4A1 Health Risk Pathogenic —
RS2509967374 SLC4A1 Health Risk Likely pathogenic —
RS2509967379 SLC4A1 Health Risk Likely pathogenic —
RS2509967589 SLC4A1 Health Risk Likely pathogenic —
RS2509968215 SLC4A1 Health Risk Likely pathogenic —
RS2509968342 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509968418 SLC4A1 Health Risk Likely pathogenic —
RS2509968499 SLC4A1 Health Risk Likely pathogenic SLC4A1-related disorder, SLC4A1-related disorder
RS2509968558 SLC4A1 Health Risk Pathogenic —
RS2509968564 SLC4A1 Health Risk Likely pathogenic —
RS2509969653 SLC4A1 Health Risk Likely pathogenic —
RS2509969702 SLC4A1 Health Risk Pathogenic —
RS2509970675 SLC4A1 Health Risk Pathogenic —
RS2509970932 SLC4A1 Health Risk Likely pathogenic —
RS2509970954 SLC4A1 Health Risk Likely pathogenic —
RS2509971147 SLC4A1 Health Risk Likely pathogenic —
RS2509971425 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509971762 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2509972400 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509973787 SLC4A1 Health Risk Pathogenic —
RS2509973964 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509974050 SMCHD1 Health Risk Likely pathogenic —
RS2509993138 ATP6V0A1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
RS2510021670 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510021968 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510027769 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510028167 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510032473 TGIF1 Health Risk Likely pathogenic Holoprosencephaly 4, Holoprosencephaly 4
RS2510034129 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510041967 SMCHD1 Health Risk Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510043843 TGIF1 Health Risk Likely pathogenic Holoprosencephaly 4, Holoprosencephaly 4
RS2510045525 PCYT2 Health Risk Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS2510045920 TGIF1 Health Risk Pathogenic Holoprosencephaly 4, Holoprosencephaly 4
RS2510046143 TGIF1 Health Risk Likely pathogenic —
RS2510047496 PCYT2 Health Risk Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS2510047822 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2510054161 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054302 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054318 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054336 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054484 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054566 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054675 GRN Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054676 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510054721 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510054791 GRN Health Risk Pathogenic GRN-related disorder, GRN-related disorder
RS2510055303 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510055566 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510055635 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510055662 GRN Health Risk Pathogenic —
RS2510056360 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510056456 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510057012 CYBC1 Health Risk Pathogenic —
RS2510057150 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510057200 GRN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510057422 GRN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510057446 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510057451 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510057852 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510057977 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2510058230 GRN Health Risk Pathogenic GRN-related disorder, GRN-related disorder
RS2510058297 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2510059044 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510059095 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510061846 SMCHD1 Health Risk Pathogenic SMCHD1-related disorder, SMCHD1-related disorder
RS2510061859 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510067452 LAMA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510067521 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510069921 LAMA1 Health Risk Pathogenic —
RS2510070728 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510070789 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510072374 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510072662 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510073184 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510073256 LAMA1 Health Risk Pathogenic —
RS2510073844 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510074137 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510074434 LAMA1 Health Risk Likely pathogenic —
RS2510074733 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510074739 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510074785 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510074983 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510075036 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510075075 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510075915 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510077415 CYBC1 Health Risk Pathogenic —
RS2510077481 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510077579 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
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