Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1055371114
rs1055371114
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1055371114
rs1055371114
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Dystrophin point mutation screening using a multiplexed protein truncation test. 10464635

1997