Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224997
rs863224997
DMD
A 0.700 CausalMutation CLINVAR Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. 21972111

2011
dbSNP: rs863224997
rs863224997
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
dbSNP: rs863224997
rs863224997
DMD
A 0.700 CausalMutation CLINVAR Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. 15723292

2005
dbSNP: rs863224997
rs863224997
DMD
A 0.700 CausalMutation CLINVAR Rapid direct sequence analysis of the dystrophin gene. 12632325

2003