Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs1057518207
rs1057518207
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518692
rs1057518692
DMD
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057524037
rs1057524037
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502619
rs1060502619
DMD
TT 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502621
rs1060502621
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502623
rs1060502623
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502624
rs1060502624
DMD
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502625
rs1060502625
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502627
rs1060502627
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502630
rs1060502630
DMD
ATT 0.700 CausalMutation CLINVAR

dbSNP: rs1060502632
rs1060502632
DMD
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502633
rs1060502633
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502634
rs1060502634
DMD
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502635
rs1060502635
DMD
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1060502636
rs1060502636
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502637
rs1060502637
DMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502640
rs1060502640
DMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502641
rs1060502641
DMD
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060502643
rs1060502643
DMD
T 0.700 CausalMutation CLINVAR