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
RS1927568383 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1927568587 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1927568868 PHEX Health Risk Pathogenic —
RS1927577124 PHEX Health Risk Pathogenic —
RS1927579212 PHEX Health Risk Likely pathogenic —
RS1927580756 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1927580964 PHEX Health Risk Pathogenic —
RS1927589695 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927590546 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927592770 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927592901 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS1927593812 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927598075 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1927600619 RS1 Health Risk Pathogenic —
RS1927604163 RS1 Health Risk Pathogenic —
RS1927636898 ZDHHC9 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1927638009 ZDHHC9 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS192766290 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS192766485 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS1927670769 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases
RS1927671537 ZDHHC9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS192767583 DSPP Health Risk Conflicting classifications of pathogenicity Dentinogenesis imperfecta, Inborn genetic diseases
RS1927695346 RS1 Health Risk Likely pathogenic —
RS192769565 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1927700931 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1927703176 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1927705610 RS1 Health Risk Pathogenic —
RS1927748382 DCX Health Risk Likely pathogenic —
RS1927753913 FRMD7 Health Risk Likely pathogenic Nystagmus 1, congenital
RS1927758267 DCX Health Risk Pathogenic/Likely pathogenic —
RS1927764839 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927766998 F9 Health Risk Likely pathogenic F9-related disorder, F9-related disorder
RS1927768022 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1927768329 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS192777767 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS192779168 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1927814979 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1927819239 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1927820779 RS1 Health Risk Likely pathogenic —
RS1927823203 RS1 Health Risk Pathogenic —
RS1927823799 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1927824776 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinal dystrophy
RS1927846857 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS1927850772 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS192788942 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1928044707 SMARCB1 Health Risk Pathogenic —
RS1928059485 DNAAF6 Health Risk Pathogenic Ciliary dyskinesia, primary
RS192806961 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1928102577 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS192810283 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1928103331 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1928107434 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1928109999 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1928110579 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1928111051 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1928114627 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1928115765 CYB5R3 Health Risk Pathogenic —
RS1928116697 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1928120091 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928123737 F9 Health Risk Likely pathogenic —
RS1928125452 F9 Health Risk Likely pathogenic —
RS1928125824 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928127475 GLA Health Risk Conflicting classifications of pathogenicity —
RS1928127729 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928129537 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS1928130497 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS192813057 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS1928132545 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Thrombophilia
RS1928132914 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928135337 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928137126 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928137855 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928143594 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928157897 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928161905 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS192816572 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1928166458 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928167952 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928168711 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928171557 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928172876 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928173731 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928174707 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928189534 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928192530 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928194190 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928195468 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928196393 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928196520 GLA Health Risk Likely pathogenic —
RS1928196686 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928199003 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928199153 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928216298 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928217378 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928217668 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928220547 RS1 Health Risk Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS192822119 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1928222017 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1928224021 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS192822432 MFAP5 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
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