Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504448
rs727504448
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012
dbSNP: rs727504448
rs727504448
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008

2011
dbSNP: rs727504448
rs727504448
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701

2009
dbSNP: rs727504448
rs727504448
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971

2003
dbSNP: rs727504448
rs727504448
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000