Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123862
rs398123862
DMD
A 0.700 CausalMutation CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458

2016
dbSNP: rs398123862
rs398123862
DMD
A 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs398123862
rs398123862
DMD
A 0.700 CausalMutation CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747

2009
dbSNP: rs398123862
rs398123862
DMD
A 0.700 CausalMutation CLINVAR Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 16770791

2006