Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142

2008
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445

2008
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG. 12775586

2003
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 10862094

2000
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. 10226095

1999
dbSNP: rs199472936
rs199472936
KCNH2
T 0.700 CausalMutation CLINVAR Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080

1998