Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.730 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.730 CausalMutation CLINVAR Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. 20975234

2010
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.730 CausalMutation CLINVAR Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. 18808722

2008
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.730 CausalMutation CLINVAR We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome. 11170080

2001