Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1267969615
rs1267969615
ACE
0.020 GeneticVariation BEFREE Results indicate that the ACE I/D and angiotensinogen M235T and T174M polymorphisms are not related to HCM or DCM in the Japanese population, and that variants of these polymorphisms do not contribute to the genesis or progression of these cardiomyopathies. 9270088

1997
dbSNP: rs699
rs699
AGT
0.020 GeneticVariation BEFREE Results indicate that the ACE I/D and angiotensinogen M235T and T174M polymorphisms are not related to HCM or DCM in the Japanese population, and that variants of these polymorphisms do not contribute to the genesis or progression of these cardiomyopathies. 9270088

1997
dbSNP: rs4762
rs4762
AGT
0.010 GeneticVariation BEFREE Results indicate that the ACE I/D and angiotensinogen M235T and T174M polymorphisms are not related to HCM or DCM in the Japanese population, and that variants of these polymorphisms do not contribute to the genesis or progression of these cardiomyopathies. 9270088

1997
dbSNP: rs121913002
rs121913002
DES
0.010 GeneticVariation BEFREE A novel missense mutation of desmin, Ile451Met, was identified as the genetic cause of idiopathic dilated cardiomyopathy. 10430757

1999
dbSNP: rs1801253
rs1801253
ADRB1
0.020 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: rs267607155
rs267607155
TTN
0.010 GeneticVariation BEFREE In another large family with DCM linked to CMD1G, a TTN missense mutation (Trp930Arg) is predicted to disrupt a highly conserved hydrophobic core sequence of an immunoglobulin fold located in the Z-disc-I-band transition zone. 11788824

2002
dbSNP: rs28933093
rs28933093
LMNA
0.810 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062

2003
dbSNP: rs61672878
rs61672878
LMNA
0.020 GeneticVariation BEFREE Mutations in LMNA were detected in four families (8%), three with familial (R89L, 959delT, R377H) and one with sporadic DCM (S573L). 12628721

2003
dbSNP: rs61672878
rs61672878
LMNA
0.020 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062

2003
dbSNP: rs74315379
rs74315379
TNNT2
0.020 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: rs74315380
rs74315380
TNNT2
0.020 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: rs2856655
rs2856655
MYBPC3
0.010 GeneticVariation BEFREE Elderly patients with Arg820Gln mutation may show "burnt-out" phase HCM, and patients with this mutation may be included among those diagnosed as having DCM. 12628722

2003
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: rs61661343
rs61661343
LMNA
0.720 GeneticVariation BEFREE Screening for the lamin A/C gene and, particularly, the S143P mutation seems warranted when patients with DCM have conduction system disturbances. 15140538

2004
dbSNP: rs137852764
rs137852764
CSRP3
0.010 GeneticVariation BEFREE We identified a patient with DCM and EFE, having a mutation in MLP with the residue lysine 69 substituted by arginine (K69R). 14567970

2004
dbSNP: rs1462311598
rs1462311598
DMD
0.010 GeneticVariation BEFREE We identified a patient with DCM and EFE, having a mutation in MLP with the residue lysine 69 substituted by arginine (K69R). 14567970

2004
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
0.010 GeneticVariation BEFREE Two TCAP mutations, T137I and R153H, were found in patients with HCM, and another TCAP mutation, E132Q, was identified in a patient with DCM. 15582318

2004
dbSNP: rs373850074
rs373850074
PDLIM5
0.010 GeneticVariation BEFREE We identified a patient with DCM and EFE, having a mutation in MLP with the residue lysine 69 substituted by arginine (K69R). 14567970

2004
dbSNP: rs748358368
rs748358368
TCAP
0.010 GeneticVariation BEFREE Two TCAP mutations, T137I and R153H, were found in patients with HCM, and another TCAP mutation, E132Q, was identified in a patient with DCM. 15582318

2004
dbSNP: rs57045855
rs57045855
LMNA
0.720 GeneticVariation BEFREE We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S). 16061563

2005
dbSNP: rs59026483
rs59026483
LMNA
0.710 GeneticVariation BEFREE The mutations p.Q355X and p.S22L have not been reported before, whereas p.R190W has already been reported in other studied DCM cohorts. 15539782

2005
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 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: rs1212453165
rs1212453165
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: rs758264780
rs758264780
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