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
RS2519647893 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647922 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519647963 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519648050 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519648083 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519648297 KIF4A Health Risk Pathogenic Taurodontism, microdontia
RS2519648692 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519648777 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519648782 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2519651770 SLC35A2 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS2519651965 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS2519652117 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519652509 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519653280 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519655360 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519659019 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519660069 PHF8 Health Risk Pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2519660708 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2519663637 KIF4A Health Risk Pathogenic Intellectual disability, X-linked 100
RS2519663708 KIF4A Health Risk Pathogenic Intellectual disability, X-linked 100
RS2519663982 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519667319 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2519669569 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519669796 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519669835 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519669860 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670205 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670387 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670437 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670710 IQSEC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519670739 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670851 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519670968 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519671108 SMS Health Risk Likely pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS2519671168 SMS Health Risk Likely pathogenic —
RS2519671183 SMS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type
RS2519671247 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2519672613 IQSEC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519673290 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519674075 MED12 Health Risk Likely pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2519674440 PHF8 Health Risk Likely pathogenic PHF8-related disorder, PHF8-related disorder
RS2519674603 PHF8 Health Risk Pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2519674967 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519675345 MED12 Health Risk Pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2519675600 MED12 Health Risk Pathogenic FG syndrome, FG syndrome
RS2519676038 IQSEC2 Health Risk Likely pathogenic Seizure, Seizure
RS2519681429 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519681676 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS2519682264 MED12 Health Risk Likely pathogenic MED12-related disorder, MED12-related disorder
RS2519683509 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519684553 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519684728 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519684825 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519684932 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685103 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685183 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685402 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685812 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685837 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685866 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685918 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519685971 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS2519686550 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS2519686615 RPS6KA3 Health Risk Likely pathogenic —
RS2519686818 SYN1 Health Risk Pathogenic Intellectual disability, X-linked 50
RS2519686907 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519686958 RPS6KA3 Health Risk Pathogenic/Likely pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519688140 CASK Health Risk Likely pathogenic CASK-related disorder, CASK-related disorder
RS2519688268 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519688611 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519689195 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519690121 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, female-restricted
RS2519691305 MED12 Health Risk Pathogenic FG syndrome, FG syndrome
RS2519691466 MED12 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2519691731 ZC4H2 Health Risk Likely pathogenic See cases, See cases
RS2519692505 MED12 Health Risk Likely pathogenic —
RS2519692620 MED12 Health Risk Likely pathogenic —
RS2519693665 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS2519693722 ZC4H2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519694809 MED12 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2519694918 MED12 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2519695198 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2519696329 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS2519702084 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519702331 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS2519702377 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519702423 MED12 Health Risk Pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Nonspecific Intellectual Disability
RS2519702564 MED12 Health Risk Conflicting classifications of pathogenicity See cases, FG syndrome 1
RS2519704378 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519705025 IQSEC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519705505 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519706389 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2519706400 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519707917 PHEX Health Risk Pathogenic —
RS2519708540 OTUD5 Health Risk Likely pathogenic Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome
RS2519708972 MED12 Health Risk Likely pathogenic FG syndrome, FG syndrome
RS2519712469 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519712556 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519712575 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2519713569 PHEX Health Risk Pathogenic —
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