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
RS2503890804 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2503893341 DYNC1H1 Health Risk Likely pathogenic —
RS2503894370 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503895810 OTX2 Health Risk Pathogenic Anophthalmia, Anophthalmia
RS2503896126 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503896318 OTX2 Health Risk Pathogenic Anophthalmia, Anophthalmia
RS2503896661 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503896787 OTX2 Health Risk Likely pathogenic OTX2-related disorder, OTX2-related disorder
RS2503896952 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503897056 OTX2 Health Risk Pathogenic OTX2-related disorder, OTX2-related disorder
RS2503898578 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503898831 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503907025 OTX2 Health Risk Likely pathogenic —
RS2503907718 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503907965 OTX2 Health Risk Pathogenic OTX2-related disorder, OTX2-related disorder
RS2503908103 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2503908217 OTX2 Health Risk Likely pathogenic OTX2-related disorder, OTX2-related disorder
RS2503913559 ESRRB Health Risk Likely pathogenic —
RS2503914651 TSHR Health Risk Pathogenic —
RS2503927998 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS2503929243 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS2503929383 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503934675 TSHR Health Risk Pathogenic —
RS2503935384 TSHR Health Risk Pathogenic —
RS2503936427 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503938650 TSHR Health Risk Pathogenic —
RS2503939649 ZMYM2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503941036 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503941161 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503941404 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503941482 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503941771 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503942069 TSHR Health Risk Pathogenic —
RS2503944067 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Lung cancer
RS2503944266 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503944394 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503944736 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503944840 TSHR Health Risk Pathogenic —
RS2503944921 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503945043 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503947416 TSHR Health Risk Pathogenic —
RS2503949772 TSHR Health Risk Pathogenic —
RS2503950061 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS2503951525 ESRRB Health Risk Pathogenic/Likely pathogenic —
RS2503962927 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503963172 PSMC1 Health Risk Pathogenic Neurodevelopmental disorder with poor growth, spastic tetraplegia
RS2503966693 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503966765 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503966833 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503967525 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503967649 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503967975 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2503968954 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503969019 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503969318 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503969338 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2503969430 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2503973638 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503975323 MAGEL2 Health Risk Pathogenic —
RS2503975756 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503975945 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503975999 MAGEL2 Health Risk Pathogenic —
RS2503976271 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS2503977497 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503978491 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503978535 MAGEL2 Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2503978993 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2503979002 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
RS2503979318 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS2503979926 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503980170 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2503993076 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS2504031824 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS2504036153 ANK2 Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2504054902 TRPM1 Health Risk Pathogenic —
RS2504063396 FLVCR2 Health Risk Pathogenic/Likely pathogenic Fowler syndrome, Fowler syndrome
RS2504069166 TRPM1 Health Risk Pathogenic —
RS2504079165 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504084532 OCA2 Health Risk Pathogenic —
RS2504085836 TRPM1 Health Risk Likely pathogenic —
RS2504086152 OCA2 Health Risk Likely pathogenic —
RS2504093512 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504093549 TGFB3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2504093853 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504096267 TGFB3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2504098708 TRPM1 Health Risk Pathogenic —
RS2504099601 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504099767 TGFB3 Health Risk Pathogenic/Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504100355 GRIP1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2504102788 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504102877 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504102952 TGFB3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2504110379 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504110410 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504111590 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504111668 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504111670 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504111963 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2504130934 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504141901 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
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