Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122853
rs398122853
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.710 GeneticVariation BEFREE DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655

2009
dbSNP: rs398122853
rs398122853
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		T 0.710 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs398122853
rs398122853
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		T 0.710 CausalMutation CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655

2009
dbSNP: rs398122853
rs398122853
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		T 0.710 CausalMutation CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170

2009
dbSNP: rs267606771
rs267606771
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		A 0.710 CausalMutation CLINVAR

dbSNP: rs267606771
rs267606771
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.710 GeneticVariation BEFREE A nonsense mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case. 9410897

1997
dbSNP: rs886044916
rs886044916
DMD
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886044502
rs886044502
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. 17253928

2006
dbSNP: rs886044502
rs886044502
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs886044502
rs886044502
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820

2016
dbSNP: rs886044502
rs886044502
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		G 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: rs886044455
rs886044455
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886043989
rs886043989
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		T 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: rs886043989
rs886043989
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886043989
rs886043989
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013
dbSNP: rs886043989
rs886043989
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		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: rs886043989
rs886043989
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014
dbSNP: rs886043989
rs886043989
DMD
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150

1993
dbSNP: rs886043676
rs886043676
DMD
CUI: C1854301
Disease: Motor delay
Motor delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886043676
rs886043676
DMD
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886043676
rs886043676
DMD
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886043375
rs886043375
DMD
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		AG 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