Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912510
rs121912510
KCNH2
A 0.700 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs121912510
rs121912510
KCNH2
A 0.700 CausalMutation CLINVAR Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 16432067

2006
dbSNP: rs121912510
rs121912510
KCNH2
A 0.700 CausalMutation CLINVAR Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. 10996323

2000
dbSNP: rs121912510
rs121912510
KCNH2
A 0.700 CausalMutation CLINVAR C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971

1999
dbSNP: rs121912510
rs121912510
KCNH2
A 0.700 GeneticVariation CLINVAR