Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516695
rs397516695
DES
0.700 GeneticVariation UNIPROT Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect. 26724190

2016
dbSNP: rs397516695
rs397516695
DES
0.700 GeneticVariation UNIPROT The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. 24200904

2013
dbSNP: rs397516695
rs397516695
DES
0.700 GeneticVariation UNIPROT Desmin mutation responsible for idiopathic dilated cardiomyopathy. 10430757

1999