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
RS2141014161 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141014662 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141014847 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016007 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016108 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016305 SPRED1 Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS2141016437 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016462 SPRED1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome and Noonan-related syndrome, Legius syndrome
RS2141016500 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2141016553 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016685 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016692 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016711 SPRED1 Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS2141016737 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141016934 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141019036 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141019983 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141022949 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141022986 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141023054 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141023331 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141023340 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141023345 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141023403 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141024241 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141024987 SPPL2A Health Risk Pathogenic Immunodeficiency 86, Immunodeficiency 86
RS2141025675 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2141027825 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS2141027919 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141027980 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141029118 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141033061 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2141033426 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2141034312 CYP19A1 Health Risk Pathogenic —
RS2141034530 CYP19A1 Health Risk Pathogenic —
RS2141037423 TELO2 Health Risk Likely pathogenic —
RS2141038703 TTC8 Health Risk Pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2141041750 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2141041805 CYP19A1 Health Risk Pathogenic —
RS2141041961 ZMYM2 Health Risk Likely pathogenic —
RS2141042140 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2141044380 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2141051168 CYP19A1 Health Risk Pathogenic —
RS2141051210 CYP19A1 Health Risk Pathogenic —
RS2141051275 CYP19A1 Health Risk Pathogenic —
RS2141051516 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2141056788 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141056921 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141061879 CYP19A1 Health Risk Pathogenic —
RS2141062122 CYP19A1 Health Risk Pathogenic —
RS2141064916 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS2141076409 RASGRP1 Health Risk Pathogenic —
RS2141079375 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS2141084327 MYO5A Health Risk Likely pathogenic Griscelli syndrome type 1, Griscelli syndrome type 1
RS2141088947 IFT140 Health Risk Conflicting classifications of pathogenicity See cases, Saldino-Mainzer syndrome
RS2141098146 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS2141098660 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141102601 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141102654 CAPN3 Health Risk Pathogenic —
RS2141102673 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS2141102811 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141105806 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2141105930 CYP19A1 Health Risk Pathogenic —
RS2141106328 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141106403 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141106935 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141106983 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141107140 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141107413 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141108180 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141115303 SLC12A1 Health Risk Likely pathogenic —
RS2141115536 RASGRP1 Health Risk Pathogenic —
RS2141121011 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141121140 MYO5A Health Risk Pathogenic Griscelli syndrome type 1, Griscelli syndrome type 1
RS2141121333 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141123410 CYP19A1 Health Risk Pathogenic —
RS2141124327 SOCS1 Health Risk Likely pathogenic Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
RS2141124542 SOCS1 Health Risk Pathogenic Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
RS2141124790 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141125120 SOCS1 Health Risk Likely pathogenic Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
RS2141125364 SOCS1 Health Risk Likely pathogenic —
RS2141126974 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141129448 THSD4 Health Risk Pathogenic Aortic aneurysm, familial thoracic 12
RS2141130040 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141130246 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2141130589 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS2141132961 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis 7
RS2141133179 LRRK1 Health Risk Pathogenic —
RS2141133924 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS2141135900 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2141135967 CLN6 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2141136011 CLN6 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2141136108 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2141136701 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141137200 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141137336 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141137371 GJA3 Health Risk Likely pathogenic —
RS2141138001 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Cataract 14 multiple types
RS2141138155 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141138365 GJA3 Health Risk Pathogenic/Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
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