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
RS2527028635 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527028830 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527029241 GNPAT Health Risk Pathogenic —
RS2527029264 GNPAT Health Risk Pathogenic —
RS2527036464 FMN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 47
RS2527036970 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527037165 GNPAT Health Risk Pathogenic —
RS2527037759 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527038050 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527038818 TBCE Health Risk Pathogenic —
RS2527039167 TBCE Health Risk Pathogenic —
RS2527041400 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2527044242 GNPAT Health Risk Likely pathogenic —
RS2527044274 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044284 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044406 MUC1 Health Risk Likely pathogenic Tubulointerstitial kidney disease, autosomal dominant
RS2527044533 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044560 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044612 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527047139 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527047592 HUWE1 Health Risk Likely pathogenic HUWE1-related disorder, HUWE1-related disorder
RS2527047768 GNPAT Health Risk Pathogenic —
RS2527048870 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2527049898 MUC1 Health Risk Likely pathogenic Tubulointerstitial kidney disease, autosomal dominant
RS2527051551 TBCE Health Risk Pathogenic —
RS2527070597 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527071591 TBCE Health Risk Pathogenic —
RS2527071646 TBCE Health Risk Pathogenic —
RS2527072205 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527072900 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527078373 TBCE Health Risk Pathogenic —
RS2527078803 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527080172 LYST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527080870 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527081103 LYST Health Risk Likely pathogenic LYST-related disorder, LYST-related disorder
RS2527086071 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527086097 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527087129 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527100064 ST3GAL3 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2527102709 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527103588 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527105833 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527106533 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527109083 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527110492 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, LYST-related disorder
RS2527113160 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527113303 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527113758 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2527114176 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527114523 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527115755 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527115993 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527116390 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527119870 BCL10 Health Risk Pathogenic Immunodeficiency 37, Immunodeficiency 37
RS2527120727 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1 associated disorder, KCNH1 associated disorder
RS2527120758 KCNH1 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS2527120778 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527120913 KCNH1 Health Risk Pathogenic —
RS2527121232 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527121662 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527122347 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527122910 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527128643 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527133215 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527146010 ASH1L Health Risk Pathogenic —
RS2527146722 F13B Health Risk Likely pathogenic F13B-related disorder, F13B-related disorder
RS2527148458 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2527151935 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2527154062 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527158994 ASH1L Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2527159983 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527159996 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527167934 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2527171863 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS2527176109 ASH1L Health Risk Likely pathogenic —
RS2527185382 ASH1L Health Risk Pathogenic —
RS2527187534 ASH1L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527187941 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS2527188107 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2527200635 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2527209619 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2527210283 KIF14 Health Risk Likely pathogenic Microcephaly 20, primary
RS2527210571 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS2527215447 CR2 Health Risk Likely pathogenic Systemic lupus erythematosus, susceptibility to
RS2527218073 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2527219225 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2527222545 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2527223934 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2527224555 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2527225441 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2527246387 UBAP2L Health Risk Pathogenic Neurodevelopmental disorder with impaired language, behavioral abnormalities
RS2527247243 UBAP2L Health Risk Pathogenic Neurodevelopmental disorder with impaired language, behavioral abnormalities
RS2527252200 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2527257698 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527257999 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527258082 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527258499 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527258815 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527259540 DEGS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS2527259690 DEGS1 Health Risk Pathogenic —
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