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