Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010666282
rs1010666282
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 25244321

2014
dbSNP: rs104894787
rs104894787
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894789
rs104894789
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1055371114
rs1055371114
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: rs1055371114
rs1055371114
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Dystrophin point mutation screening using a multiplexed protein truncation test. 10464635

1997
dbSNP: rs1057518207
rs1057518207
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518692
rs1057518692
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057524037
rs1057524037
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502619
rs1060502619
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		TT 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502621
rs1060502621
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502623
rs1060502623
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502624
rs1060502624
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502625
rs1060502625
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502627
rs1060502627
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502630
rs1060502630
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		ATT 0.700 CausalMutation CLINVAR

dbSNP: rs1060502632
rs1060502632
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502633
rs1060502633
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502634
rs1060502634
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502635
rs1060502635
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs1060502636
rs1060502636
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502637
rs1060502637
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502640
rs1060502640
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502641
rs1060502641
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502643
rs1060502643
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502644
rs1060502644
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR