Gene: DMD ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894790
rs104894790
DMD
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: rs1010666282
rs1010666282
DMD
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
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894789
rs104894789
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1055371114
rs1055371114
DMD
A 0.700 CausalMutation CLINVAR Dystrophin point mutation screening using a multiplexed protein truncation test. 10464635

1997
dbSNP: rs1055371114
rs1055371114
DMD
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: rs1060502621
rs1060502621
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502623
rs1060502623
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502633
rs1060502633
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502637
rs1060502637
DMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502640
rs1060502640
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502645
rs1060502645
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502646
rs1060502646
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502647
rs1060502647
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502653
rs1060502653
DMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064325
rs1064325
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626232
rs128626232
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626235
rs128626235
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626241
rs128626241
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626245
rs128626245
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626248
rs128626248
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128626251
rs128626251
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs128627256
rs128627256
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1340365803
rs1340365803
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1385794215
rs1385794215
DMD
A 0.700 CausalMutation CLINVAR Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 21399986

2011