Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123981
rs398123981
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: rs398123981
rs398123981
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: rs398123981
rs398123981
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
dbSNP: rs398123981
rs398123981
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation 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: rs398123981
rs398123981
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
A 0.700 CausalMutation 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