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
RS1556329954 IL2RG Health Risk Pathogenic —
RS1556330234 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330249 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330286 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330304 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556330552 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330562 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330568 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330710 IL2RG Health Risk Pathogenic —
RS1556330713 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330755 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556330940 IL2RG Health Risk Pathogenic —
RS1556330963 IL2RG Health Risk Pathogenic —
RS1556331272 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1556334045 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1556334114 MED12 Health Risk Pathogenic —
RS1556334519 MED12 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, FG syndrome 1
RS1556334780 MED12 Health Risk Likely pathogenic —
RS1556334793 MED12 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556334969 MED12 Health Risk Pathogenic FG syndrome 1, Blepharophimosis - intellectual disability syndrome
RS1556335112 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS1556337063 MED12 Health Risk Pathogenic FG syndrome 1, FG syndrome
RS1556337085 MED12 Health Risk Likely pathogenic —
RS1556338764 MED12 Health Risk Pathogenic —
RS1556338810 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS1556340124 MED12 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556341546 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556345557 OCRL Health Risk Likely pathogenic —
RS1556345889 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1556346208 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556346271 OCRL Health Risk Pathogenic —
RS1556346316 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1556347185 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1556350571 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556357274 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556357314 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1556358991 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS1556359362 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS1556367745 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS1556370543 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS1556370548 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS1556370556 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS1556370558 SRY Health Risk Likely pathogenic 46, XY sex reversal 1
RS1556370576 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS1556375815 KDM6A Health Risk Pathogenic —
RS1556376311 DCX Health Risk Likely pathogenic —
RS1556377028 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS1556379508 GPR101 Health Risk Pathogenic Pituitary adenoma, growth hormone-secreting
RS1556389083 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1556401714 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 8
RS1556401725 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS1556401730 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS1556401744 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS1556401951 DCX Health Risk Pathogenic/Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS1556402053 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS1556403086 COL4A5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556403112 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556403276 COL4A5 Health Risk Pathogenic —
RS1556404027 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556404455 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1556404534 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1556404575 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases
RS1556404673 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1556404684 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, Nonpapillary renal cell carcinoma
RS1556404697 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1556404985 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556404991 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS1556405010 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556405057 DCX Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1556405065 DCX Health Risk Pathogenic —
RS1556405129 DCX Health Risk Pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS1556405916 COL4A5 Health Risk Pathogenic —
RS1556405926 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556405930 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556406001 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556406033 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS1556406736 COL4A5 Health Risk Pathogenic —
RS1556406775 COL4A5 Health Risk Likely pathogenic —
RS1556406859 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556407064 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556407078 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556407684 COL4A5 Health Risk Likely pathogenic —
RS1556407701 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1556408009 XIAP Health Risk Pathogenic Recurrent infections, Sepsis
RS1556410266 COL4A5 Health Risk Pathogenic —
RS1556410516 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556411578 COL4A5 Health Risk Pathogenic Hematuria, Kidney damage
RS1556411631 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556416876 SBF1 Health Risk Pathogenic —
RS1556418210 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1556418287 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556419606 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS1556419800 COL4A5 Health Risk Pathogenic —
RS1556419831 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556419850 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556419869 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556419895 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556420349 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS1556420358 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1556421106 COL4A5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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