Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009