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
RS2148427910 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148428124 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148428193 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148428322 DMD Health Risk Pathogenic —
RS2148428395 DMD Health Risk Likely pathogenic Cardiomyopathy, Dystrophin deficiency
RS2148429508 NBAS Health Risk Pathogenic —
RS2148434034 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148434107 MTM1 Health Risk Pathogenic —
RS2148436383 ATRX Health Risk Likely pathogenic —
RS2148442883 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148443048 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148443341 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2148443351 ALK Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2148443574 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2148443715 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148446020 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2148446128 STAG2 Health Risk Likely pathogenic —
RS2148450759 SSR4 Health Risk Pathogenic SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
RS2148450972 SSR4 Health Risk Pathogenic SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
RS2148451946 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148455901 MTM1 Health Risk Likely pathogenic —
RS2148456062 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148456078 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148456401 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148456625 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148456690 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Squamous cell carcinoma of the head and neck
RS2148456727 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148457026 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148457196 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148457829 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS2148458912 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148459016 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148459355 DYM Health Risk Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2148459492 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148459928 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2148460005 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2148460313 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148460570 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148460867 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148461695 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148463710 NBAS Health Risk Pathogenic —
RS2148463805 NBAS Health Risk Pathogenic —
RS2148463846 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS2148464034 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS2148464837 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148465558 CHRDL1 Health Risk Likely pathogenic Megalocornea, Megalocornea
RS2148467030 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148467424 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148467517 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148468809 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS2148468818 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS2148468861 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS2148472644 IFT172 Health Risk Likely pathogenic IFT172-related disorder, IFT172-related disorder
RS2148474921 ITGB4 Health Risk Pathogenic —
RS2148476381 IFT172 Health Risk Pathogenic Bardet-Biedl syndrome 20, Bardet-Biedl syndrome 20
RS2148477195 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148477695 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148479160 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148479895 TAF1 Health Risk association Heart, malformation of
RS2148480016 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS2148484887 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148485071 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148485357 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148485378 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148485744 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148485970 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148486874 IFT172 Health Risk Pathogenic —
RS2148487077 IFT172 Health Risk Pathogenic —
RS2148488085 TAF1 Health Risk Likely pathogenic See cases, See cases
RS2148488146 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2148488251 TAF1 Health Risk Pathogenic Heart, malformation of
RS2148488364 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148488410 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148488487 MTM1 Health Risk Likely pathogenic —
RS2148488506 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148491730 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148491960 L1CAM Health Risk Pathogenic/Likely pathogenic L1CAM-related disorder, L1 syndrome
RS2148492200 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148492410 L1CAM Health Risk Conflicting classifications of pathogenicity MASA syndrome, Spastic paraplegia
RS2148493243 L1CAM Health Risk Pathogenic MASA syndrome, Thyroid cancer
RS2148493304 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148493825 L1CAM Health Risk Pathogenic Global developmental delay, Spastic paraplegia
RS2148493879 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148493891 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148494055 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148494096 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148494123 L1CAM Health Risk Likely pathogenic —
RS2148494128 L1CAM Health Risk Pathogenic/Likely pathogenic MASA syndrome, X-linked hydrocephalus syndrome
RS2148494337 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148495027 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2148495720 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148495739 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2148496033 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2148496168 L1CAM Health Risk Pathogenic —
RS2148496455 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2148496532 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148496739 L1CAM Health Risk Likely pathogenic —
RS2148497420 CC2D2A Health Risk Pathogenic Retinitis pigmentosa 93, Retinitis pigmentosa 93
RS2148497631 L1CAM Health Risk Likely pathogenic —
RS2148497891 MTM1 Health Risk Likely pathogenic —
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