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
RS1602284689 IQSEC2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 1
RS1602286005 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1602286285 CDKL5 Health Risk Pathogenic —
RS1602286391 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602286449 CDKL5 Health Risk Pathogenic —
RS1602286792 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602286899 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602288051 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602288211 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602289183 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602289411 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602289631 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602289649 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602289943 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1602290398 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602291658 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1602291861 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1602292076 CASK Health Risk Pathogenic/Likely pathogenic FG syndrome 4, Abnormality of the nervous system
RS1602292181 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602292205 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1602292528 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602293475 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1602293563 IQSEC2 Health Risk Pathogenic —
RS1602293823 IQSEC2 Health Risk Pathogenic —
RS1602295395 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1602295727 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602295779 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1602295979 MED12 Health Risk Conflicting classifications of pathogenicity X-linked MED12-related disorder, FG syndrome
RS1602298609 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS1602298653 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1602299778 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS1602300615 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS1602300816 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1602300837 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1602300882 CDKL5 Health Risk Likely pathogenic —
RS1602303865 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602304005 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602307030 PHEX Health Risk Pathogenic —
RS1602307078 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602307094 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602307107 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602308324 BRWD3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1602308821 RS1 Health Risk Likely pathogenic Retinoschisis, Retinoschisis
RS1602311804 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS1602324484 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602324630 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Nonpapillary renal cell carcinoma
RS1602330420 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Inborn genetic diseases
RS1602330603 PQBP1 Health Risk Pathogenic —
RS1602332039 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS1602333390 PQBP1 Health Risk Likely pathogenic Microcephaly, Microcephaly
RS1602337330 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602338283 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602338615 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, non-lesional focal epilepsy
RS1602338996 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1602340350 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1602342597 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602342663 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602344901 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1602347637 RP2 Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1602347786 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602347792 RP2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602347851 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602347861 SLC35A2 Health Risk Pathogenic —
RS1602347908 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1602347992 RP2 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1602348517 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1602348519 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602348524 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602348530 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1602348610 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348650 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348658 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348662 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602348726 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602348735 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348737 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602348782 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348786 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348794 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348801 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602348804 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602348820 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602348876 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348895 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602348897 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348907 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348917 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602348932 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602348981 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349004 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349017 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1602349021 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1602349029 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602349045 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602349050 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349066 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349087 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349095 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349112 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349131 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
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