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
RS398123807 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS398123808 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS398123809 OFD1 Health Risk Pathogenic —
RS398123810 OFD1 Health Risk Pathogenic —
RS398123811 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS398123812 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS398123827 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS398123828 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS398123830 DMD Health Risk Pathogenic —
RS398123832 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123833 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123834 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Intermediate muscular dystrophy
RS398123835 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123837 DMD Health Risk Pathogenic —
RS398123838 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123839 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS398123840 DMD Health Risk Pathogenic —
RS398123844 DMD Health Risk Pathogenic —
RS398123846 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123847 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS398123848 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS398123852 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS398123853 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123854 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123855 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123856 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123857 DMD Health Risk Pathogenic —
RS398123859 DMD Health Risk Pathogenic —
RS398123861 DMD Health Risk Pathogenic —
RS398123862 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123863 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS398123865 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123866 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123867 DMD Health Risk Pathogenic —
RS398123868 DMD Health Risk Pathogenic —
RS398123870 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123872 DMD Health Risk Pathogenic Abnormality of the musculature, Duchenne muscular dystrophy
RS398123873 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123875 DMD Health Risk Pathogenic —
RS398123881 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS398123882 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123883 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123884 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123885 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123886 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS398123887 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123888 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123889 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123892 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123893 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123895 DMD Health Risk Pathogenic —
RS398123896 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS398123899 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123901 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123902 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123903 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123905 DMD Health Risk Pathogenic Duchenne muscular dystrophy, DMD-related disorder
RS398123908 DMD Health Risk Pathogenic Acute rhabdomyolysis, Acute rhabdomyolysis
RS398123909 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123910 DMD Health Risk Pathogenic —
RS398123911 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS398123912 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Abnormality of the musculature
RS398123913 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123915 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123916 DMD Health Risk Pathogenic —
RS398123917 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123919 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123920 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123923 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS398123929 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123931 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123934 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123935 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS398123936 DMD Health Risk Pathogenic —
RS398123937 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123938 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123939 DMD Health Risk Pathogenic Elevated circulating creatine kinase concentration, Duchenne muscular dystrophy
RS398123940 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123942 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123943 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123945 DMD Health Risk Pathogenic/Likely pathogenic —
RS398123946 DMD Health Risk Pathogenic —
RS398123948 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123949 DMD Health Risk Pathogenic —
RS398123950 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123951 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123952 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123953 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS398123954 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS398123956 DMD Health Risk Conflicting classifications of pathogenicity Dystrophin deficiency, Duchenne muscular dystrophy
RS398123957 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123959 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS398123960 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123961 DMD Health Risk Pathogenic —
RS398123962 DMD Health Risk Pathogenic Dystrophin deficiency, Duchenne muscular dystrophy
RS398123963 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123965 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS398123966 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS398123969 DMD Health Risk Pathogenic —
RS398123970 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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