Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Investigation of ion channel gene variants in patients with long QT syndrome. 21308345

2011
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445

2008
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 16432067

2006
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. 11668638

2001
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2. 10690305

1999
dbSNP: rs199472916
rs199472916
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 9600240

1998