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
RS2527956878 WDR35 Health Risk Likely pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS2527957063 WDR35 Health Risk Pathogenic/Likely pathogenic WDR35-related disorder, Cranioectodermal dysplasia 2
RS2527959424 EPRS1 Health Risk Pathogenic —
RS2527961081 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527963676 NCF2 Health Risk Pathogenic/Likely pathogenic Chronic granulomatous disease, Granulomatous disease
RS2527964072 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2527964515 NCF2 Health Risk Pathogenic/Likely pathogenic Chronic granulomatous disease, Granulomatous disease
RS2527964759 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS2527966691 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527967028 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527967845 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527968047 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2527968384 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527968546 EPRS1 Health Risk Pathogenic —
RS2527968714 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527972277 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527972446 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527972496 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527972658 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527973173 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527973222 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A
RS2527973445 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527973482 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527973813 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527973836 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974074 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974254 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527974360 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974458 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974593 EPRS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2527974791 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974976 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS2527976630 EPRS1 Health Risk Pathogenic —
RS2527976811 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2527978799 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527980043 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527980984 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527981305 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527985163 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527985401 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527987101 USH2A Health Risk Pathogenic —
RS2527987206 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527987231 USH2A Health Risk Likely pathogenic —
RS2527987310 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527987608 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527987698 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2527987900 USH2A Health Risk Likely pathogenic —
RS2527987922 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527987978 USH2A Health Risk Likely pathogenic —
RS2527988932 LMNA Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS2527989011 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527989438 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527990239 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527991012 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527991248 LMNA Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2527991951 LMNA Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS2527992407 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527993395 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527994002 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527994027 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2527997008 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527997071 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527997089 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS2527997430 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527999623 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527999747 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528006468 LMNA Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2528007230 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2528007533 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528009199 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528011998 LMNA Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS2528012634 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2528012830 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528012899 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528013214 NBAS Health Risk Pathogenic —
RS2528013396 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528018166 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528018977 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2528019483 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2528020132 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2528020305 USH2A Health Risk Pathogenic —
RS2528020496 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2528021632 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2528021760 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2528022418 NCF2 Health Risk Pathogenic —
RS2528022648 EPRS1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2528030429 NBAS Health Risk Pathogenic —
RS2528030864 NBAS Health Risk Likely pathogenic NBAS-related disorder, NBAS-related disorder
RS2528034207 DMD Health Risk Pathogenic —
RS2528034799 EPRS1 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2528035259 USH2A Health Risk Pathogenic —
RS2528035375 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528035439 NBAS Health Risk Pathogenic —
RS2528035466 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528035588 USH2A Health Risk Pathogenic —
RS2528035765 USH2A Health Risk Likely pathogenic —
RS2528035875 USH2A Health Risk Pathogenic —
RS2528035894 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528035944 USH2A Health Risk Pathogenic —
RS2528035971 USH2A Health Risk Pathogenic —
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