Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556035795
rs1556035795
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1556035817
rs1556035817
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs1556035817
rs1556035817
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation 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: rs1556040444
rs1556040444
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 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: rs1556040444
rs1556040444
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 25244321

2014
dbSNP: rs1556040444
rs1556040444
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs1556040444
rs1556040444
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation 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: rs1556046080
rs1556046080
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1556256329
rs1556256329
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1556503937
rs1556503937
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017
dbSNP: rs1556503937
rs1556503937
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1556503937
rs1556503937
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747

2009
dbSNP: rs1556503937
rs1556503937
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556503937
rs1556503937
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. 10196701

1999
dbSNP: rs1556656456
rs1556656456
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1556656487
rs1556656487
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556656818
rs1556656818
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs1556656847
rs1556656847
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556665052
rs1556665052
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556665303
rs1556665303
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556764880
rs1556764880
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1556789913
rs1556789913
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1556802319
rs1556802319
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs1556802319
rs1556802319
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
dbSNP: rs1556802319
rs1556802319
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation 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