Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124074
rs398124074
DMD
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098

2011
dbSNP: rs398124074
rs398124074
DMD
A 0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010
dbSNP: rs398124074
rs398124074
DMD
A 0.700 CausalMutation CLINVAR [Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography]. 17880784

2007
dbSNP: rs398124074
rs398124074
DMD
A 0.700 CausalMutation CLINVAR Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. 17435279

2007
dbSNP: rs398124074
rs398124074
DMD
A 0.700 CausalMutation CLINVAR A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. 16834926

2006