Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128625229
rs128625229
DMD
A 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013
dbSNP: rs128625229
rs128625229
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: rs128625229
rs128625229
DMD
A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596

1992