Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123973
rs398123973
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: rs398123973
rs398123973
DMD
A 0.700 CausalMutation CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795

2010

dbSNP: rs398123973
rs398123973
DMD
A 0.700 CausalMutation CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747

2009

dbSNP: rs398123973
rs398123973
DMD
A 0.700 CausalMutation CLINVAR Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. 17253928

2006

dbSNP: rs398123973
rs398123973
DMD
A 0.700 CausalMutation CLINVAR The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. 15351422

2004

dbSNP: rs398123973
rs398123973
DMD
A 0.700 CausalMutation CLINVAR Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. 11524473

2001