Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128626235
rs128626235
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013
dbSNP: rs128626235
rs128626235
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508 2011
dbSNP: rs128626235
rs128626235
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation CLINVAR Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. 20098710 2010
dbSNP: rs128626235
rs128626235
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation CLINVAR Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. 7951253 1994