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
RS2520268337 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520268676 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520270976 DMD Health Risk Pathogenic/Likely pathogenic —
RS2520271176 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520271810 CHM Health Risk Pathogenic —
RS2520272102 CHM Health Risk Pathogenic —
RS2520272281 CHM Health Risk Pathogenic —
RS2520272389 CHM Health Risk Pathogenic —
RS2520272466 CHM Health Risk Pathogenic —
RS2520272621 CHM Health Risk Pathogenic —
RS2520272693 CHM Health Risk Pathogenic —
RS2520272719 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520272747 CHM Health Risk Pathogenic —
RS2520272803 CHM Health Risk Pathogenic —
RS2520272868 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520273128 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520273473 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520273810 CHM Health Risk Pathogenic —
RS2520273829 CHM Health Risk Pathogenic —
RS2520281315 DRP2 Health Risk Likely pathogenic —
RS2520282293 DRP2 Health Risk Pathogenic —
RS2520282379 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2520291201 DRP2 Health Risk Pathogenic —
RS2520291370 DRP2 Health Risk Pathogenic —
RS2520298620 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2520298732 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2520312027 BRWD3 Health Risk Pathogenic —
RS2520318107 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2520318825 CHM Health Risk Pathogenic —
RS2520325920 WNK3 Health Risk Likely pathogenic 9 conditions, 9 conditions
RS2520327622 CHM Health Risk Pathogenic —
RS2520327814 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS2520334457 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520334697 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520334969 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520335042 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520335121 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520335192 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520335334 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520337535 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520337597 EDA Health Risk Pathogenic —
RS2520339340 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343039 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343091 EDA Health Risk Likely pathogenic EDA-related disorder, EDA-related disorder
RS2520343200 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343206 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343256 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343370 EDA Health Risk Pathogenic Tooth agenesis, selective
RS2520343398 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343419 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343480 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520343545 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520345214 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS2520346450 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520346616 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520346795 EDA Health Risk Likely pathogenic EDA-related disorder, EDA-related disorder
RS2520346836 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520346923 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520346934 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520346963 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520347019 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520347265 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520347360 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520355610 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2520356009 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2520356386 HDAC8 Health Risk Likely pathogenic —
RS2520389876 GPC4 Health Risk Conflicting classifications of pathogenicity Keipert syndrome, GPC4-related disorder
RS2520390381 GPC4 Health Risk Likely pathogenic Keipert syndrome, Keipert syndrome
RS2520399910 GPC4 Health Risk Likely pathogenic Keipert syndrome, Keipert syndrome
RS2520404165 ZNF711 Health Risk Likely pathogenic —
RS2520411944 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520419268 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2520420090 HDAC8 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2520422667 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS2520422732 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520425612 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2520435923 ZNF711 Health Risk Likely pathogenic Intellectual disability, X-linked 97
RS2520444940 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520448495 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520449652 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520470293 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma
RS2520470317 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520471010 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS2520472984 CHRDL1 Health Risk Pathogenic —
RS2520501798 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520507592 NXF3 Health Risk Likely pathogenic Male infertility, Male infertility
RS2520526295 SSR4 Health Risk Likely pathogenic SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
RS2520526514 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520526807 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520527086 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520527377 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520527624 BTK Health Risk Likely pathogenic —
RS2520527745 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS2520528219 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520528329 BTK Health Risk Likely pathogenic Common variable immunodeficiency, Common variable immunodeficiency
RS2520528716 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520528778 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520528927 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520529056 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520529293 SSR4 Health Risk Pathogenic SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
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