Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913002
rs121913002
DES
0.020 GeneticVariation BEFREE A missense mutation (Ile 451 to Met) at the tail domain of the muscle-specific intermediate filament protein desmin has been suggested to be a genetic cause of dilated cardiomyopathy. 18539904

2008
dbSNP: rs121913002
rs121913002
DES
0.020 GeneticVariation BEFREE The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency. 11728149

2001