Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. 25923442

2015
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways. 25809256

2015
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels. 25008322

2014
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643. 20876384

2011
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels. 21536673

2011
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR We studied wild-type and/or type 2 long-QT syndrome-associated mutant (R56Q) HERG current (I(HERG)) in HEK-293 cells, at both 23 and 36 degrees C. Conventional voltage-clamp analysis revealed mutation-induced changes in channel kinetics. 15475579

2005
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. 11854117

2002
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472845
rs199472845
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R). 10187793

1999