Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123827
rs398123827
DMD
A 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013
dbSNP: rs398123827
rs398123827
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
dbSNP: rs398123827
rs398123827
DMD
A 0.700 CausalMutation CLINVAR Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. 10909857

2000