Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894790
rs104894790
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin. 22425969

2012

dbSNP: rs886043989
rs886043989
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
T 0.700 CausalMutation CLINVAR

dbSNP: rs886043375
rs886043375
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
AG 0.700 CausalMutation CLINVAR

dbSNP: rs886043041
rs886043041
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs886042840
rs886042840
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs886042747
rs886042747
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs886042604
rs886042604
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
T 0.700 CausalMutation CLINVAR

dbSNP: rs886041344
rs886041344
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039785
rs886039785
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878854621
rs878854621
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
C 0.700 CausalMutation CLINVAR

dbSNP: rs878854619
rs878854619
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854618
rs878854618
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854366
rs878854366
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
C 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016

dbSNP: rs863225007
rs863225007
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
CT 0.700 CausalMutation CLINVAR

dbSNP: rs863224999
rs863224999
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs863224986
rs863224986
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs796523999
rs796523999
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
TA 0.700 CausalMutation CLINVAR

dbSNP: rs794727661
rs794727661
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
AT 0.700 CausalMutation CLINVAR

dbSNP: rs794726993
rs794726993
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs794726993
rs794726993
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs794726993
rs794726993
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: rs779739455
rs779739455
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs770845480
rs770845480
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs765445866
rs765445866
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR

dbSNP: rs762250680
rs762250680
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR