DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557303544
rs1557303544
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines. 16566881 2006
dbSNP: rs1557303544
rs1557303544
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR Experience and strategy for the molecular testing of Duchenne muscular dystrophy. 16049303 2005