Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030730
rs5030730
DMD
A 0.700 CausalMutation CLINVAR Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. 29581631

2017
dbSNP: rs5030730
rs5030730
DMD
A 0.700 CausalMutation CLINVAR Dystrophin levels and clinical severity in Becker muscular dystrophy patients. 24292997

2014
dbSNP: rs5030730
rs5030730
DMD
A 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: rs5030730
rs5030730
DMD
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: rs5030730
rs5030730
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. 11039581

2000