Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043989
rs886043989
DMD
T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs886043989
rs886043989
DMD
T 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013

dbSNP: rs886043989
rs886043989
DMD
T 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: rs886043989
rs886043989
DMD
T 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

dbSNP: rs886043989
rs886043989
DMD
T 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150

1993