Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123999
rs398123999
DMD
A 0.700 CausalMutation CLINVAR Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 19783145

2009
dbSNP: rs398123999
rs398123999
DMD
A 0.700 CausalMutation CLINVAR Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. 19074751

2009
dbSNP: rs398123999
rs398123999
DMD
A 0.700 CausalMutation CLINVAR Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. 11257468

2001
dbSNP: rs398123999
rs398123999
DMD
A 0.700 CausalMutation CLINVAR Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. 15643612

2005
dbSNP: rs398123999
rs398123999
DMD
A 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. 21969337

2011