Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556806356
rs1556806356
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034

2015
dbSNP: rs1556806356
rs1556806356
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs1556806356
rs1556806356
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556806356
rs1556806356
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556806356
rs1556806356
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 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: rs1556809704
rs1556809704
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556853039
rs1556853039
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1556853298
rs1556853298
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
dbSNP: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508

2011
dbSNP: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556875224
rs1556875224
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		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: rs1556876346
rs1556876346
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556880354
rs1556880354
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1556917057
rs1556917057
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556929259
rs1556929259
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		AT 0.700 CausalMutation CLINVAR

dbSNP: rs1556930769
rs1556930769
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556930839
rs1556930839
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		AT 0.700 CausalMutation CLINVAR

dbSNP: rs1556962223
rs1556962223
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556962271
rs1556962271
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		AAATG 0.700 GeneticVariation CLINVAR

dbSNP: rs1557011973
rs1557011973
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1557047827
rs1557047827
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1557058308
rs1557058308
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1557079469
rs1557079469
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1557084128
rs1557084128
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1557218076
rs1557218076
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR