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
RS398123971 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123973 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123977 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123978 DMD Health Risk Pathogenic —
RS398123979 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123980 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123981 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398123982 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123985 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS398123988 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS398123990 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123991 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398123993 DMD Health Risk Pathogenic —
RS398123994 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS398123997 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS398123999 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS398124001 DMD Health Risk Pathogenic —
RS398124002 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS398124003 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124004 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124005 DMD Health Risk Pathogenic —
RS398124006 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124007 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124008 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124012 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124032 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124033 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS398124034 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124036 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124038 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124039 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124040 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124041 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124042 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124044 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124046 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124047 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124049 DMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS398124050 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124051 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124052 DMD Health Risk Pathogenic —
RS398124053 DMD Health Risk Pathogenic —
RS398124055 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124058 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124059 DMD Health Risk Pathogenic —
RS398124060 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124061 DMD Health Risk Pathogenic —
RS398124062 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124067 DMD Health Risk Likely pathogenic Abnormality of the musculature, Duchenne muscular dystrophy
RS398124068 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS398124070 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124071 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124072 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS398124073 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124074 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124075 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124077 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124078 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124079 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124080 DMD Health Risk Pathogenic —
RS398124081 DMD Health Risk Pathogenic —
RS398124082 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS398124091 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS398124092 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124094 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS398124096 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124099 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124100 DMD Health Risk Pathogenic —
RS398124103 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124104 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124105 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS398124106 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124107 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS398124117 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS398124119 COL6A3 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS398124120 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398124123 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398124125 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS398124126 COL6A3 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS398124128 COL6A3 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS398124129 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS398124131 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398124135 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS398124136 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398124137 COL6A3 Health Risk Conflicting classifications of pathogenicity —
RS398124138 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS398124139 CREBBP Health Risk Pathogenic —
RS398124141 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS398124143 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS398124144 CREBBP Health Risk Pathogenic —
RS398124145 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS398124146 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS398124147 CREBBP Health Risk Likely pathogenic —
RS398124148 CREBBP Health Risk Pathogenic —
RS398124150 CREBBP Health Risk Pathogenic —
RS398124151 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Other rare neuromuscular disorders
RS398124152 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS398124153 ETFDH Health Risk Pathogenic —
RS398124155 FGD1 Health Risk Pathogenic —
RS398124156 FGD1 Health Risk Pathogenic —
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