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
RS2491536745 WAC Health Risk Pathogenic —
RS2491536970 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491537238 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2491538919 ABCA2 Health Risk Pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS2491545342 COL27A1 Health Risk Pathogenic —
RS2491546539 COL27A1 Health Risk Pathogenic —
RS2491561807 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491561874 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491562052 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491562057 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491562436 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491577146 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491577168 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491577825 VPS13B Health Risk Likely pathogenic —
RS2491577873 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491580027 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491580504 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491583718 PDSS1 Health Risk Pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS2491606436 ARFGEF1 Health Risk Pathogenic —
RS2491620028 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491620281 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491620581 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491621783 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491625001 DCLRE1C Health Risk Likely pathogenic —
RS2491626059 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2491628054 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491628823 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491629087 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491629802 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491630012 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491630672 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491631105 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491631758 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491633975 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491634111 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491634513 DCLRE1C Health Risk Likely pathogenic Athabaskan severe combined immunodeficiency, Athabaskan severe combined immunodeficiency
RS2491635110 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491635842 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491636150 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491637403 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491637540 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491649495 MYORG Health Risk Likely pathogenic MYORG-related disorder, MYORG-related disorder
RS2491649501 MYORG Health Risk Likely pathogenic MYORG-related disorder, MYORG-related disorder
RS2491650155 ARFGEF1 Health Risk Pathogenic —
RS2491656326 MYORG Health Risk Likely pathogenic —
RS2491659371 MYORG Health Risk Pathogenic —
RS2491707628 MYO3A Health Risk Pathogenic/Likely pathogenic —
RS2491708231 MYO3A Health Risk Pathogenic —
RS2491711751 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2491713504 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2491728764 MYO3A Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2491772724 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2491773855 VPS13B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome
RS2491774358 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491774546 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491774580 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491774628 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491774838 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491775008 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2491775642 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491788605 SVIL Health Risk Likely pathogenic —
RS2491808618 WHRN Health Risk Pathogenic —
RS2491808665 ARFGEF1 Health Risk Pathogenic Developmental delay, impaired speech
RS2491830256 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491842001 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491842094 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491842475 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491842486 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491842520 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491844131 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491844147 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491846909 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491851327 ITGA8 Health Risk Pathogenic Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS2491866364 KIF5B Health Risk Conflicting classifications of pathogenicity KIF5B-related developmental disorder, 6 conditions
RS2491869860 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2491871660 KIF5B Health Risk Pathogenic Feeding difficulties, Intellectual disability
RS2491873704 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491904960 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491909343 ADAM9 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2491926489 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2491926757 WAC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2491927082 WAC Health Risk Pathogenic —
RS2491927303 WAC Health Risk Pathogenic —
RS2491932875 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2491935478 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2491942104 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2491943944 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491946890 CUBN Health Risk Likely pathogenic CUBN-related disorder, CUBN-related disorder
RS2491946964 DCLRE1C Health Risk Pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2491947800 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491948309 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491948431 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2491951548 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491952203 HNRNPK Health Risk Pathogenic —
RS2491952548 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491956711 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491957120 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491957229 HNRNPK Health Risk Likely pathogenic HNRNPK-related disorder, HNRNPK-related disorder
RS2491957897 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491957986 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
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