Gene: DMD ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1556875224
rs1556875224
DMD
T 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508

2011
dbSNP: rs1557380685
rs1557380685
DMD
A 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs398123827
rs398123827
DMD
A 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. 21969337

2011
dbSNP: rs398123942
rs398123942
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: rs1055371114
rs1055371114
DMD
A 0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010
dbSNP: rs1556875224
rs1556875224
DMD
T 0.700 CausalMutation CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795

2010
dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795

2010
dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010
dbSNP: rs398124099
rs398124099
DMD
A 0.700 GeneticVariation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873

2010
dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747

2009
dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009
dbSNP: rs1556806356
rs1556806356
DMD
C 0.700 CausalMutation 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 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009
dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170

2009
dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655

2009
dbSNP: rs398123942
rs398123942
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: rs794726993
rs794726993
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: rs1556802319
rs1556802319
DMD
A 0.700 CausalMutation CLINVAR Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. 17726484

2008
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: rs398123852
rs398123852
DMD
A 0.700 CausalMutation CLINVAR Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. 17726484

2008
dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008
dbSNP: rs1556806356
rs1556806356
DMD
C 0.700 CausalMutation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292

2007
dbSNP: rs1556875224
rs1556875224
DMD
T 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: rs1557369991
rs1557369991
DMD
A 0.700 CausalMutation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292

2007