Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 25417810

2014
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties. 23022675

2013
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Genetic testing of patients with long QT syndrome. 21216356

2011
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome. 21109023

2011
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. 12808265

2003
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363

2002