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
RS1936131926 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS1936163310 OCRL Health Risk Pathogenic/Likely pathogenic Lowe syndrome, Dent disease type 2
RS1936187674 PLOD2 Health Risk Pathogenic —
RS1936192276 OCRL Health Risk Pathogenic Dent disease type 2, Dent disease type 2
RS1936229983 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS1936254038 MYO18B Health Risk Pathogenic —
RS1936266464 OCRL Health Risk Likely pathogenic —
RS1936307795 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome
RS1936359447 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1936360149 PHEX Health Risk Pathogenic —
RS1936360418 PHEX Health Risk Pathogenic —
RS1936360754 PHEX Health Risk Pathogenic —
RS1936360966 PHEX Health Risk Pathogenic —
RS1936362098 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1936362707 PHEX Health Risk Pathogenic —
RS1936363158 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1936370877 OCRL Health Risk Pathogenic Dent disease type 2, Dent disease type 2
RS1936435987 PHEX Health Risk Likely pathogenic —
RS1936436171 PHEX Health Risk Pathogenic —
RS1936436245 PHEX Health Risk Pathogenic —
RS1936437304 PHEX Health Risk Pathogenic —
RS1936438118 PHEX Health Risk Pathogenic —
RS1936438347 PHEX Health Risk Likely pathogenic —
RS1936440191 PHEX Health Risk Pathogenic —
RS1936441464 PHEX Health Risk Likely pathogenic —
RS1936442200 PLOD2 Health Risk Pathogenic/Likely pathogenic —
RS1936551332 OCRL Health Risk Pathogenic —
RS1936552283 OCRL Health Risk Pathogenic —
RS1936553500 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1936634853 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1936640897 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1936673622 TCF20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1936727304 TBX1 Health Risk Likely pathogenic Velocardiofacial syndrome, Tetralogy of Fallot
RS1936760837 TBX1 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1936824289 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations
RS1936845711 TBX1 Health Risk Pathogenic/Likely pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1936852915 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1936960785 GABRA3 Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS1936985911 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS1937166346 STAG1 Health Risk Pathogenic Intellectual disability, autosomal dominant 47
RS1937608887 PLOD2 Health Risk Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS1937658910 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937699293 CTSC Health Risk Likely pathogenic Periodontitis, aggressive 1
RS1937710190 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937748622 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS1937786065 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS1937804892 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937806716 KMT2D;LOC126861520 Health Risk Pathogenic —
RS1937821838 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937846568 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937856263 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1937915973 KMT2D Health Risk Pathogenic —
RS1937934886 KMT2D Health Risk Pathogenic —
RS1937935080 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937965638 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1937976668 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938012365 PDZD7 Health Risk Pathogenic —
RS1938013397 PDZD7 Health Risk Pathogenic —
RS1938028530 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938056582 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1938072820 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1938074857 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1938093232 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1938110760 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS1938115946 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938140093 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938142007 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938157903 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1938178701 SCN8A Health Risk Pathogenic/Likely pathogenic See cases, Early-infantile DEE
RS1938179062 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1938179478 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1938214529 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1938214848 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1938214882 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS1938215673 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1938216114 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1938216771 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938242419 C1R Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1938243794 IFT27 Health Risk Pathogenic —
RS1938252263 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1938252967 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938253506 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938253851 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1938279494 IFT27 Health Risk Pathogenic —
RS1938283570 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938291650 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938292099 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938292111 IFT27 Health Risk Pathogenic Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19
RS1938301071 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938304119 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1938314766 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1938354052 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1938372282 DDX23 Health Risk Conflicting classifications of pathogenicity —
RS1938405472 DDX23 Health Risk Conflicting classifications of pathogenicity Abnormal facial shape, Fetal growth restriction
RS1938536859 CTSC Health Risk Pathogenic Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS1938610955 COL2A1 Health Risk Likely pathogenic Short stature, Short stature
RS1938615785 KRT5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1938635857 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1938637889 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1938645889 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
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