Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs137853197
rs137853197
NEXN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492

2009
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR

dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs1408345511
rs1408345511
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs143139258
rs143139258
MYL2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs148894066
rs148894066
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs150974575
rs150974575
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: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000
dbSNP: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
dbSNP: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Desmin myopathy. 14724127

2004
dbSNP: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709

2013
dbSNP: rs150974575
rs150974575
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: rs150974575
rs150974575
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: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455

2009
dbSNP: rs150974575
rs150974575
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: rs1553265736
rs1553265736
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553577362
rs1553577362
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553603152
rs1553603152
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603456
rs1553603456
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553607425
rs1553607425
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553691320
rs1553691320
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 CausalMutation CLINVAR