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
RS2520118634 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2520118920 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520122502 ATRX Health Risk Pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2520124995 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS2520131629 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520132180 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Choroideremia
RS2520135479 ATRX Health Risk Pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2520162018 TFE3 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked
RS2520162033 TFE3 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked
RS2520162046 TFE3 Health Risk Likely pathogenic —
RS2520164693 TFE3 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked
RS2520173058 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2520187527 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520189518 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520192152 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520194099 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520195542 CASK Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2520208301 BRWD3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520209863 NDUFB11 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 30
RS2520209894 NDUFB11 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 30
RS2520212203 BRWD3 Health Risk Pathogenic —
RS2520212243 BRWD3 Health Risk Likely pathogenic BRWD3-related disorder, BRWD3-related disorder
RS2520215450 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520215518 POU3F4 Health Risk Likely pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520215844 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520216033 POU3F4 Health Risk Pathogenic —
RS2520216275 POU3F4 Health Risk Pathogenic —
RS2520216475 POU3F4 Health Risk Likely pathogenic —
RS2520216564 POU3F4 Health Risk Likely pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520216752 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520216767 POU3F4 Health Risk Likely pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520216844 POU3F4 Health Risk Likely pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS2520217968 NDUFB11 Health Risk Likely pathogenic —
RS2520219483 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS2520223550 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS2520226008 TAF1 Health Risk Pathogenic See cases, See cases
RS2520232100 BRWD3 Health Risk Likely pathogenic —
RS2520236997 BRWD3 Health Risk Pathogenic —
RS2520242340 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520242345 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520242542 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2520242932 EDA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520251987 CHM Health Risk Pathogenic —
RS2520252687 CHM Health Risk Pathogenic —
RS2520252727 CHM Health Risk Pathogenic —
RS2520252941 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2520253188 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520253559 TAF1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520257673 CHM Health Risk Pathogenic —
RS2520258929 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS2520259073 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260012 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260197 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260202 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260205 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260230 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260272 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260289 WDR45 Health Risk Pathogenic Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5
RS2520260298 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520260751 WDR45 Health Risk Likely pathogenic —
RS2520260803 CHM Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2520260876 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261025 WDR45 Health Risk Pathogenic —
RS2520261159 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2520261228 CHM Health Risk Pathogenic —
RS2520261283 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261326 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS2520261349 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261407 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261432 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261481 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261521 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261558 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520261564 WDR45 Health Risk Pathogenic —
RS2520261696 WDR45 Health Risk Pathogenic WDR45-related disorder, WDR45-related disorder
RS2520262051 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520262068 WDR45 Health Risk Pathogenic —
RS2520262076 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520262143 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520262174 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520262195 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520263635 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520264151 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520264339 WDR45 Health Risk Likely pathogenic Optic atrophy 2, Optic atrophy 2
RS2520265920 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2520266084 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520266090 WDR45 Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2520266117 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520266230 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520266428 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520266797 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520266803 WDR45 Health Risk Likely pathogenic Optic atrophy 2, Optic atrophy 2
RS2520266854 WDR45 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2520266877 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2520267118 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520267314 WDR45 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520267360 WDR45 Health Risk Pathogenic —
RS2520267733 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520268054 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520268144 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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