rs3745297, HRC

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.050 GeneticVariation BEFREE The histidine-rich calcium-binding protein (HRC) Ser96Ala variant has previously been identified as a potential biomarker for ventricular arrhythmias and sudden cardiac death in patients with idiopathic dilated cardiomyopathy. 28859293 2017
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.050 GeneticVariation BEFREE The common Ser96Ala human genetic variant of HRC strongly correlates with life-threatening ventricular arrhythmias in patients with idiopathic dilated cardiomyopathy. 28784772 2017
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.050 GeneticVariation BEFREE A human genetic variant (Ser96Ala) in the sarcoplasmic reticulum (SR) histidine-rich Ca(2+)-binding (HRC) protein has been linked to ventricular arrhythmia and sudden death in dilated cardiomyopathy. 24125847 2013
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.050 GeneticVariation BEFREE These findings indicate that the HRC Ser96Ala variant increases the propensity of arrhythmogenic Ca(2+) waves in the stressed failing heart, suggesting a link between this genetic variant and life-threatening ventricular arrhythmias in human carriers. 21742996 2011
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.050 GeneticVariation BEFREE The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM. 18617481 2008
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.040 GeneticVariation BEFREE Herein, we summarize the current evidence on the pivotal role of HRC in the regulation of cardiac rhythmicity and the importance of HRC Ser96Ala as a genetic modifier for arrhythmias in the setting of heart failure. 30319456 2018
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.040 GeneticVariation BEFREE Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant. 28859293 2017
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.040 GeneticVariation BEFREE Abnormal calcium cycling and cardiac arrhythmias associated with the human Ser96Ala genetic variant of histidine-rich calcium-binding protein. 24125847 2013
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.040 GeneticVariation BEFREE In the present study, we assessed the molecular and cellular mechanisms underlying human arrhythmias by adenoviral expression of the human wild-type (HRC(WT)) or mutant HRC (HRC(S96A)) in adult rat ventricular cardiomyocytes. 21742996 2011
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.030 GeneticVariation BEFREE The histidine-rich calcium-binding protein (HRC) Ser96Ala variant has previously been identified as a potential biomarker for ventricular arrhythmias and sudden cardiac death in patients with idiopathic dilated cardiomyopathy. 28859293 2017
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.030 GeneticVariation BEFREE The common Ser96Ala human genetic variant of HRC strongly correlates with life-threatening ventricular arrhythmias in patients with idiopathic dilated cardiomyopathy. 28784772 2017
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.030 GeneticVariation BEFREE The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM. 18617481 2008
Heart failure
CUI: C0018801
Disease: Heart failure
0.020 GeneticVariation BEFREE Herein, we summarize the current evidence on the pivotal role of HRC in the regulation of cardiac rhythmicity and the importance of HRC Ser96Ala as a genetic modifier for arrhythmias in the setting of heart failure. 30319456 2018
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.020 GeneticVariation BEFREE Herein, we summarize the current evidence on the pivotal role of HRC in the regulation of cardiac rhythmicity and the importance of HRC Ser96Ala as a genetic modifier for arrhythmias in the setting of heart failure. 30319456 2018
Heart failure
CUI: C0018801
Disease: Heart failure
0.020 GeneticVariation BEFREE However, expression of the HRC(S96A) genetic variant in cardiomyocytes from a rat model of postmyocardial infarction heart failure induced dramatic disturbances of rhythmic Ca(2+) transients. 21742996 2011
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.020 GeneticVariation BEFREE However, expression of the HRC(S96A) genetic variant in cardiomyocytes from a rat model of postmyocardial infarction heart failure induced dramatic disturbances of rhythmic Ca(2+) transients. 21742996 2011
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE The patient age was younger and rate of diabetes and hypertension lower in the PAF patients with Ser96Ala than in those without (TT/TG/GG, 179/120/35; 64±10/60±12/59±13 y, P = 0.001; 18.5/ 9.2/8.6%, P = 0.04 and 66.1/50.0/37.1%, P = 0.001, respectively). 30840693 2019
Paroxysmal atrial fibrillation
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
0.010 GeneticVariation BEFREE We enrolled PAF patients who underwent RFCA (N = 334 for screening and N = 245 for replication) and were genotyped for HRC SNP (rs3745297). 30840693 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE The patient age was younger and rate of diabetes and hypertension lower in the PAF patients with Ser96Ala than in those without (TT/TG/GG, 179/120/35; 64±10/60±12/59±13 y, P = 0.001; 18.5/ 9.2/8.6%, P = 0.04 and 66.1/50.0/37.1%, P = 0.001, respectively). 30840693 2019
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.010 GeneticVariation BEFREE HRC SNP Ser96Ala is important as a new genetic marker of AF recurrence after RFCA. 30840693 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE The patient age was younger and rate of diabetes and hypertension lower in the PAF patients with Ser96Ala than in those without (TT/TG/GG, 179/120/35; 64±10/60±12/59±13 y, P = 0.001; 18.5/ 9.2/8.6%, P = 0.04 and 66.1/50.0/37.1%, P = 0.001, respectively). 30840693 2019