Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502626
rs1060502626
DMD
T 0.700 GeneticVariation 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: rs146880270
rs146880270
DMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556962571
rs1556962571
DMD
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569528101
rs1569528101
DMD
C 0.700 GeneticVariation CLINVAR Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples. 25900853

2016
dbSNP: rs1569559822
rs1569559822
DMD
G 0.700 GeneticVariation 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: rs1569559822
rs1569559822
DMD
G 0.700 GeneticVariation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs1569559849
rs1569559849
DMD
C 0.700 GeneticVariation 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: rs1569559849
rs1569559849
DMD
C 0.700 GeneticVariation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292

2007
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 22223181

2012
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565

2016
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. 17854090

2008
dbSNP: rs398123909
rs398123909
DMD
A 0.700 GeneticVariation CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023

2013
dbSNP: rs398124091
rs398124091
DMD
C 0.700 GeneticVariation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013
dbSNP: rs398124091
rs398124091
DMD
C 0.700 GeneticVariation CLINVAR Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. 14659407

2004
dbSNP: rs398124091
rs398124091
DMD
C 0.700 GeneticVariation CLINVAR Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. 19602481

2009
dbSNP: rs587776747
rs587776747
DMD
C 0.700 GeneticVariation CLINVAR Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. 12754707

2003
dbSNP: rs587776747
rs587776747
DMD
C 0.700 GeneticVariation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010
dbSNP: rs797045526
rs797045526
DMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs794727272
rs794727272
DMD
0.010 GeneticVariation BEFREE Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function. 25340340

2014
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 Point mutations in the dystrophin gene. 1549596

1992
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