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: rs398123923
rs398123923
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		G 0.700 GeneticVariation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885 2014
dbSNP: rs398123923
rs398123923
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		G 0.700 GeneticVariation CLINVAR Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 16770791 2006