Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057522454
rs1057522454
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs128626246
rs128626246
DMD
T 0.700 CausalMutation CLINVAR Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 28318817

2017

dbSNP: rs1556789913
rs1556789913
DMD
T 0.700 CausalMutation CLINVAR Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387

2017

dbSNP: rs1569530432
rs1569530432
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs1569559106
rs1569559106
DMD
C 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

dbSNP: rs398123832
rs398123832
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs398123923
rs398123923
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs398123935
rs398123935
DMD
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs398123953
rs398123953
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs398124050
rs398124050
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. 28100912

2017

dbSNP: rs5030730
rs5030730
DMD
A 0.700 CausalMutation CLINVAR Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. 29581631

2017

dbSNP: rs773643220
rs773643220
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs863224985
rs863224985
DMD
A 0.700 CausalMutation CLINVAR Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons. 28526893

2017

dbSNP: rs1557218131
rs1557218131
DMD
T 0.700 CausalMutation CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458

2016

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

2016

dbSNP: rs1569562952
rs1569562952
DMD
G 0.700 CausalMutation CLINVAR Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. 27515321

2016

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

2016

dbSNP: rs398123862
rs398123862
DMD
A 0.700 CausalMutation CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458

2016

dbSNP: rs886044502
rs886044502
DMD
G 0.700 CausalMutation CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820

2016

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: rs128626250
rs128626250
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: rs128627256
rs128627256
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