Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124105
rs398124105
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398124099
rs398124099
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation 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: rs398124099
rs398124099
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873

2010
dbSNP: rs398124099
rs398124099
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. 14659407

2004
dbSNP: rs398124074
rs398124074
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124040
rs398124040
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353

2016
dbSNP: rs398124040
rs398124040
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR Cannabis diagnosis of patients receiving treatment for cocaine dependence. 2136098

1990
dbSNP: rs398124040
rs398124040
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis. 9067763

1997
dbSNP: rs398124012
rs398124012
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398123973
rs398123973
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398123960
rs398123960
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study. 23756440

2014
dbSNP: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008
dbSNP: rs398123942
rs398123942
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818

2018
dbSNP: rs398123935
rs398123935
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398123929
rs398123929
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398123923
rs398123923
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 GeneticVariation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs398123923
rs398123923
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs398123909
rs398123909
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023

2013
dbSNP: rs398123883
rs398123883
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398123852
rs398123852
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. 17726484

2008