Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747

2009

dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009

dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. 10196701

1999