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 To further study the role of this domain in the function of cardiomyocytes and in the development of cardiomyopathy, we generated transgenic mice expressing the mutant desmin(I451M) in the cardiac tissue. 18539904

2008
dbSNP: rs121913002
rs121913002
DES
0.020 GeneticVariation BEFREE Of interest, the same I451M mutation has previously been reported in patients with cardiomyopathy and no signs of skeletal myopathy. 12609507

2003