rs1805127, KCNE1

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
recurrent muscle twitches (symptom)
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
0.010 GeneticVariation BEFREE Together with the common KCNE1 variant S38G, previously proposed as a genetic modifier of AF, HCN4-P883R may provide a substrate for the development of AF and TIC. 31481236 2019
Tic disorder
CUI: C0040188
Disease: Tic disorder
0.010 GeneticVariation BEFREE Together with the common KCNE1 variant S38G, previously proposed as a genetic modifier of AF, HCN4-P883R may provide a substrate for the development of AF and TIC. 31481236 2019
Behavioral tic
CUI: C0278076
Disease: Behavioral tic
0.010 GeneticVariation BEFREE Together with the common KCNE1 variant S38G, previously proposed as a genetic modifier of AF, HCN4-P883R may provide a substrate for the development of AF and TIC. 31481236 2019
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE Patients with KCNE1(G38S) had a rate-dependent repolarization abnormality similar to patients with LQT2 and, therefore, may have a potential risk to develop lethal arrhythmias. 27255646 2017
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.010 GeneticVariation BEFREE In the QT-RR regression lines, the QT-RR slope was greater in the KCNE1(G38S) carriers and the LQT2 patients (0.215 ± 0.021 and 0.207 ± 0.032, respectively) than in the LQT1 patients (0.163 ± 0.014, P < 0.05) and the control subjects (0.135 ± 0.025, P < 0.001). 27255646 2017
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.010 GeneticVariation BEFREE Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers. 28749435 2017
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.010 GeneticVariation BEFREE In the QT-RR regression lines, the QT-RR slope was greater in the KCNE1(G38S) carriers and the LQT2 patients (0.215 ± 0.021 and 0.207 ± 0.032, respectively) than in the LQT1 patients (0.163 ± 0.014, P < 0.05) and the control subjects (0.135 ± 0.025, P < 0.001). 27255646 2017
Torsades de Pointes
CUI: C0040479
Disease: Torsades de Pointes
0.010 GeneticVariation BEFREE Abnormal repolarization dynamics in a patient with KCNE1(G38S) who presented with torsades de pointes. 26520166 2016
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.010 GeneticVariation BEFREE Patients with KCNE1(G38S) could have similar potential risk of ventricular arrhythmia as with LQTS. 26520166 2016
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE In addition, rs1805127, in KCNE1, is associated with the presence of nephropathy. 27509294 2016
Tinnitus
CUI: C0040264
Disease: Tinnitus
0.010 GeneticVariation BEFREE After adjustment, rs426496 was significantly associated with tinnitus during the initial crisis and with altered electronystagmography, and rs1805127 was significantly associated with nephropathy. 27509294 2016
Meniere Disease
CUI: C0025281
Disease: Meniere Disease
0.010 GeneticVariation BEFREE A polymorphism rs1805127 in the potassium channel gene, KCNE1, was associated with MD in sporadic (p = 0.011), but not familial patients (p = 0.62). 22934933 2012
Heart failure
CUI: C0018801
Disease: Heart failure
0.010 GeneticVariation BEFREE KCNE1 S38G SNP is associated with HF predisposition in two study populations. 20185111 2010
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.010 GeneticVariation BEFREE KCNE1 S38G SNP is associated with HF predisposition in two study populations. 20185111 2010
Premature ventricular contractions
CUI: C0151636
Disease: Premature ventricular contractions
0.010 GeneticVariation BEFREE H558R was associated with an increase in QT dispersion (QTd) at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats (PVB), whereas S38G and intronic polymorphisms were related to an increase in QTd before PVB. 18803136 2008
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.020 GeneticVariation BEFREE Although KCNE1(G38S), a single-nucleotide polymorphism (SNP) causing a G38S substitution in KCNE1, is found frequently, whether and how this SNP causes long QT syndrome (LQTS) remains unclear. 27255646 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.020 GeneticVariation BEFREE Patients with KCNE1(G38S) could have similar potential risk of ventricular arrhythmia as with LQTS. 26520166 2016
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE Together with the common KCNE1 variant S38G, previously proposed as a genetic modifier of AF, HCN4-P883R may provide a substrate for the development of AF and TIC. 31481236 2019
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE The G38S polymorphism in the KCNE1 gene can significantly increase the risk of AF in both Chinese and white. 28640127 2017
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE The incidence of AF among the senior Uygur population in Xinjiang territory was correlated with the KCNE1 (G38S) polymorphism, which may be an independent risk factor for Uygur AF patients. 26662381 2015
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE KCNE1 112G>A may be useful as a biomarker for predicting the development of AF. 25366730 2014
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE This study confirmed the association of the 112G>A polymorphism and postoperative AF in a cohort of patients undergoing cardiac surgery. 24439990 2014
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE The rs1805127 polymorphism (A>G) of KCNE1 is associated with an increased risk of AF, which suggests the rs1805217 polymorphism of KCNE1 gene may play an important role in the pathogenesis of AF. 23874724 2013
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE KCNE1 G38S genetic polymorphism was determined between 237 non-valvular atrial fibrillation cases and 237 control subjects using PCR-RFLP. 23129484 2012
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.100 GeneticVariation BEFREE We also found that rs1805127 was associated with left atrial diameter and left ventricular end diastolic diameter in AF patients (χ(2)=24.883, p<0.001; χ(2)=34.901, p<0.001, respectively). 23020083 2012