Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR "Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics." 20171226

2010
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486

2010
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 22106715

2011
dbSNP: rs267607490
rs267607490
DES
T 0.810 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 17221859

2007