Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904

2015
dbSNP: rs104894787
rs104894787
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: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited. 21525508

2011
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 19367636

2009
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Small mutations of the DMD gene in Taiwanese families. 18583217

2008
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008
dbSNP: rs104894787
rs104894787
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: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596

1992