DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscular Dystrophy, Duchenne ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124099
rs398124099
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873 2010
dbSNP: rs398124099
rs398124099
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. 17041906 2007
dbSNP: rs398124099
rs398124099
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. 14659407 2004