Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893823
rs104893823
TNNC1
0.040 GeneticVariation BEFREE Mutations in cardiac troponin C (D75Y, E59D, and G159D), a key regulatory protein of myofilament contraction, have been associated with dilated cardiomyopathy (DCM). 27133568

2016
dbSNP: rs104893823
rs104893823
TNNC1
0.040 GeneticVariation BEFREE The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction with troponin I. 18803402

2008
dbSNP: rs104893823
rs104893823
TNNC1
0.040 GeneticVariation BEFREE Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). 17577574

2007
dbSNP: rs104893823
rs104893823
TNNC1
0.040 GeneticVariation BEFREE We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae. 17446435

2007
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). 19222994

2009
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy. 17360712

2007
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE In order to understand how the dilated cardiomyopathy-causing Glu40Lys mutation in TM affects actomyosin interactions, thin filaments have been reconstituted in muscle ghost fibers by incorporation of labeled Cys707 of myosin subfragment-1 and Cys374 of actin with fluorescent probe 1.5-IAEDANS and α-tropomyosin (wild-type or Glu40Lys mutant). 21741356

2011
dbSNP: rs104894501
rs104894501
TPM1
0.040 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: rs104894505
rs104894505
TPM1
0.040 GeneticVariation BEFREE The effect of the dilated cardiomyopathy-causing mutation Glu54Lys of alpha-tropomyosin on actin-myosin interactions during the ATPase cycle. 19646950

2009
dbSNP: rs104894505
rs104894505
TPM1
0.040 GeneticVariation BEFREE The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). 19222994

2009
dbSNP: rs104894505
rs104894505
TPM1
0.040 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: rs104894505
rs104894505
TPM1
0.040 GeneticVariation BEFREE E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy. 17360712

2007
dbSNP: rs104894655
rs104894655
TCAP
T 0.700 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062

2000
dbSNP: rs104894942
rs104894942
DNASE1L1 ; TAZ
0.010 GeneticVariation BEFREE Patient with c.280C>T mutation had dilated cardiomyopathy, while another patient with c.39_60del mutation had no feature of cardiomyopathy. 28123175

2017
dbSNP: rs1064793814
rs1064793814
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs10859313
rs10859313 		A 0.700 GeneticVariation GWASDB A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. 23853074

2014
dbSNP: rs10927875
rs10927875
ZBTB17
0.800 GeneticVariation GWASCAT A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883

2011
dbSNP: rs10927875
rs10927875
ZBTB17
0.800 GeneticVariation GWASDB A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883

2011
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. 25928149

2015
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. 18056057

2008
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. 23308118

2013
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649

2012
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
0.710 GeneticVariation BEFREE A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death. 29325795

2018
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
T 0.710 CausalMutation CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317

2015