Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057522454
rs1057522454
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017
dbSNP: rs1057522454
rs1057522454
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