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
RS2522052892 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522053303 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522053584 ARID1A Health Risk association Endometrial carcinoma, Endometrial carcinoma
RS2522053710 MECP2 Health Risk Likely pathogenic —
RS2522053774 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522054508 MECP2 Health Risk Pathogenic/Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Developmental disorder
RS2522054547 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522054622 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522055117 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522055324 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522055573 MECP2 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Lubs type, Syndromic X-linked intellectual disability Lubs type
RS2522056044 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522056444 MECP2 Health Risk Likely pathogenic —
RS2522056473 MECP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522056967 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2522057178 MECP2 Health Risk Likely pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Syndromic X-linked intellectual disability Lubs type
RS2522059013 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522060204 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2522061549 COX7B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2522062932 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522062937 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522063583 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522064270 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522065305 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522066395 MECP2 Health Risk Pathogenic MECP2-related disorder, MECP2-related disorder
RS2522066634 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522067436 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522067527 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522067867 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522068012 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522068400 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522068701 MECP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522068996 MECP2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2522069148 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522069950 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522070197 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522070698 MECP2 Health Risk Likely pathogenic —
RS2522071284 MECP2 Health Risk Pathogenic —
RS2522071496 MECP2 Health Risk Likely pathogenic —
RS2522071932 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522072280 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS2522073088 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522073316 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522073630 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS2522075107 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522075657 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522078030 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522079778 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522084197 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS2522085209 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2522085267 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522086284 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522086697 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522088735 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS2522088775 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522088967 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522089054 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522089110 MECP2 Health Risk Likely pathogenic —
RS2522089740 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522092007 GNB1 Health Risk Pathogenic —
RS2522096827 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522100714 SHOX Health Risk Pathogenic —
RS2522102022 SHOX Health Risk Likely pathogenic Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis
RS2522102153 SHOX Health Risk Pathogenic —
RS2522102225 SHOX Health Risk Pathogenic SHOX-related disorder, SHOX-related disorder
RS2522102328 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS2522102405 SHOX Health Risk Likely pathogenic SHOX-related disorder, SHOX-related disorder
RS2522103731 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522103865 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522103909 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522106224 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522106375 CD40LG Health Risk Pathogenic —
RS2522106457 MECP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522106494 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522106547 MECP2 Health Risk Pathogenic —
RS2522106594 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522106660 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522109882 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522110034 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522111057 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522111128 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522111616 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522111700 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522112977 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2522114205 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117677 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117728 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117745 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117875 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117925 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522117947 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522118161 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522118239 CD40LG Health Risk Likely pathogenic —
RS2522118292 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522118504 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522118643 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522118648 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2522122969 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522123139 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522131120 SHOX Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
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