Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569526122
rs1569526122
DMD
T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1569526122
rs1569526122
DMD
T 0.700 CausalMutation CLINVAR Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. 20098710

2010

dbSNP: rs1569526122
rs1569526122
DMD
T 0.700 CausalMutation CLINVAR Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. 17041906

2007

dbSNP: rs1569526122
rs1569526122
DMD
T 0.700 CausalMutation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292

2007

dbSNP: rs1569526122
rs1569526122
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