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
RS1602891688 AMMECR1 Health Risk Likely pathogenic —
RS1602893221 PRPS1 Health Risk Likely pathogenic —
RS1602901832 PRPS1 Health Risk Likely pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Thyroid cancer
RS1602903591 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1602904530 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1602928108 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1602928572 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1602937725 DMD Health Risk Pathogenic —
RS1602937895 NSDHL Health Risk Likely pathogenic Child syndrome, Child syndrome
RS1602937974 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602938385 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602942625 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1602947628 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602961831 NEFH Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS1602965271 KDM6A Health Risk Pathogenic —
RS1602975122 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1602975455 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1602975601 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1602977573 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1602979414 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1602979818 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1602981402 BGN Health Risk Likely pathogenic —
RS1602981441 BGN Health Risk Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS1602985802 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1602991098 DLG3 Health Risk Pathogenic/Likely pathogenic —
RS1602996115 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1602996815 TIMM8A Health Risk Likely pathogenic Deafness dystonia syndrome, Inborn genetic diseases
RS1603001771 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1603001805 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1603001846 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603002341 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603002367 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603002421 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603003195 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603004481 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603004514 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603005060 BTK Health Risk Likely pathogenic —
RS1603005073 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603005139 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603005659 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1603007888 BTK Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1603007942 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1603008329 BTK Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency
RS1603008349 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603008381 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1603008449 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603009115 ZNF711 Health Risk Pathogenic Intellectual disability, X-linked 97
RS1603009890 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603010333 BTK Health Risk Likely pathogenic —
RS1603010485 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603014297 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1603014708 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1603017538 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603019535 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603019594 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1603019780 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603020228 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1603037323 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1603037717 GLA Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Fabry disease
RS1603037764 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1603038103 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1603038146 AMELX Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS1603038220 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1603038411 GLA Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Fabry disease
RS1603040008 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1603040061 ATP2B3 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1603041916 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1603047806 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1603050544 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS1603051674 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS1603054589 GPC4 Health Risk Likely pathogenic GPC4-related disorder, GPC4-related disorder
RS1603060007 HDAC8 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1603068073 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1603069440 HDAC8 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS1603078587 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS1603078614 SYN1 Health Risk Pathogenic —
RS1603083122 CFP Health Risk Conflicting classifications of pathogenicity —
RS1603083173 CFP Health Risk Pathogenic —
RS1603083434 HDAC8 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1603105985 BCORL1 Health Risk Likely pathogenic Shukla-Vernon syndrome, Shukla-Vernon syndrome
RS1603113792 BCORL1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1603123976 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1603124201 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1603137168 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603149954 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603150335 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603150613 STAG2 Health Risk Conflicting classifications of pathogenicity Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1603150993 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603151699 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603180742 TCEAL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1603184989 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, MTM1-related disorder
RS1603185038 MTM1 Health Risk Pathogenic —
RS1603192748 MTM1 Health Risk Pathogenic —
RS1603198063 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS1603198937 SLC9A6 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1603201557 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS1603201598 SLC9A6 Health Risk Likely pathogenic —
RS1603214377 SLC6A8 Health Risk Pathogenic —
RS1603215013 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603215223 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
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