Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs535039125
rs535039125
CYP2B6
0.010 GeneticVariation BEFREE Knockdown of cytochrome P450 2E1 inhibits oxidative stress and apoptosis in the cTnT(R141W) dilated cardiomyopathy transgenic mice. 22665122

2012
dbSNP: rs121913627
rs121913627
MYH7
0.010 GeneticVariation BEFREE The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. 20819418

2010
dbSNP: rs121913630
rs121913630
MYH7
0.010 GeneticVariation BEFREE The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. 20819418

2010
dbSNP: rs137973321
rs137973321
NEBL ; LOC102725112
0.010 GeneticVariation BEFREE Four variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis. 20951326

2010
dbSNP: rs146275785
rs146275785
NEBL
0.010 GeneticVariation BEFREE Four variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis. 20951326

2010
dbSNP: rs199473153
rs199473153
SCN5A
0.010 GeneticVariation BEFREE Activation and repolarization characteristics of the explanted heart of a patient with a loss-of-function mutation in SCN5A (G752R) and dilated cardiomyopathy were determined after induction of right-sided ST-segment elevation by ajmaline. 20022821

2010
dbSNP: rs58327533
rs58327533
LMNA
0.010 GeneticVariation BEFREE R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. 20092787

2009
dbSNP: rs57045855
rs57045855
LMNA
0.010 GeneticVariation BEFREE The study documents that D192G mutation in LMNA gene may lead to the disruption of the nuclear wall in cardiomyocytes, thus supporting the mechanical hypothesis of dilated cardiomyopathy development in humans, which might be mutation-specific. 18502446

2008
dbSNP: rs771753477
rs771753477
OPA3
0.010 GeneticVariation BEFREE Mice homozygous for the opa3(L122P) mutation also display a severe multi-systemic disease characterized by reduced lifespan (majority dying before 4 months), decreased weight, dilated cardiomyopathy, extrapyramidal dysfunction and gross neuro-muscular defects. 18222992

2008
dbSNP: rs1267969615
rs1267969615
ACE
0.010 GeneticVariation BEFREE We examined frequencies of the M235T variant of angiotensinogen gene and I/D polymorphism of gene for angiotensin-converting enzyme in Slovak population: in hypertensive patients, coronary heart disease (CHD), dilated cardiomyopathy (DCM) and myocardial infarction (MI) patients compared to healthy subjects. 17579251

2007
dbSNP: rs1436282251
rs1436282251
FOXD4
0.010 GeneticVariation BEFREE A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality. 17273782

2007
dbSNP: rs699
rs699
AGT
0.010 GeneticVariation BEFREE We examined frequencies of the M235T variant of angiotensinogen gene and I/D polymorphism of gene for angiotensin-converting enzyme in Slovak population: in hypertensive patients, coronary heart disease (CHD), dilated cardiomyopathy (DCM) and myocardial infarction (MI) patients compared to healthy subjects. 17579251

2007
dbSNP: rs867770797
rs867770797
EDNRA
0.010 GeneticVariation BEFREE The G-231A polymorphism in the endothelin-A receptor gene is associated with lower aortic pressure in patients with dilated cardiomyopathy. 17198909

2007
dbSNP: rs199476314
rs199476314
TPM1
0.010 GeneticVariation BEFREE Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K. 16043485

2005
dbSNP: rs59026483
rs59026483
LMNA
0.010 GeneticVariation BEFREE Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. 15219508

2004
dbSNP: rs730881071
rs730881071
TNNI3
0.010 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368

2003
dbSNP: rs1801253
rs1801253
ADRB1
0.010 GeneticVariation BEFREE In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activities than the Arg389 variant, so Arg389Gly polymorphism was investigated with regard to the genesis, progression, or arrhythmogenesis of dilated cardiomyopathy (DCM). 12197595

2002
dbSNP: rs1800470
rs1800470
TGFB1
0.010 GeneticVariation BEFREE The Leu(10)-->Pro (codon 10) polymorphism in the TGF-beta1 gene is associated with end-stage heart failure caused by dilated CMP and not with IHD. 11557193

2001
dbSNP: rs28933090
rs28933090
LMNA
0.010 GeneticVariation BEFREE Point mutations that cause dilated cardiomyopathy (L85R and N195K) and autosomal dominant Emery-Dreifuss muscular dystrophy (L530P) modify the assembly properties of lamins A and C and cause partial mislocalization of emerin, an inner nuclear membrane protein, in HeLa cells. 11792810

2001
dbSNP: rs137854618
rs137854618
SCN5A
0.020 GeneticVariation BEFREE The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced Na<sub>V</sub>1.5 function, including cardiac conduction disease and dilated cardiomyopathy. 28637969

2017
dbSNP: rs58034145
rs58034145
LMNA
0.020 GeneticVariation BEFREE An accompanying paper from another laboratory shows similar impairments in mice engineered to express the LMNA H222P associated with dilated cardiomyopathy in humans and also in left ventricular tissue from human subjects. 23064282

2013
dbSNP: rs137854618
rs137854618
SCN5A
0.020 GeneticVariation BEFREE The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias. 21824921

2011
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: rs58034145
rs58034145
LMNA
0.020 GeneticVariation BEFREE Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. 15548545

2005
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