Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044502
rs886044502
DMD
G 0.700 CausalMutation CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820

2016
dbSNP: rs886044502
rs886044502
DMD
G 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs886044502
rs886044502
DMD
G 0.700 CausalMutation CLINVAR Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. 17253928

2006
dbSNP: rs886044502
rs886044502
DMD
G 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