Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508

2011
dbSNP: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795

2010
dbSNP: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 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