Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556802319
rs1556802319
DMD
A 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1556802319
rs1556802319
DMD
A 0.700 CausalMutation CLINVAR Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. 17726484

2008

dbSNP: rs1556802319
rs1556802319
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