Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225011
rs863225011
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: rs863225011
rs863225011
DMD
A 0.700 CausalMutation CLINVAR [c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity]. 25636106

2015
dbSNP: rs863225011
rs863225011
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: rs863225011
rs863225011
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009
dbSNP: rs863225011
rs863225011
DMD
A 0.700 CausalMutation CLINVAR Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. 19835634

2009
dbSNP: rs863225011
rs863225011
DMD
A 0.700 CausalMutation CLINVAR Small mutations of the DMD gene in Taiwanese families. 18583217

2008
dbSNP: rs863225011
rs863225011
DMD
A 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: rs863225011
rs863225011
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