Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912506
rs121912506
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: rs121912506
rs121912506
KCNH2
T 0.700 CausalMutation CLINVAR Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2. 11278781

2001
dbSNP: rs121912506
rs121912506
KCNH2
T 0.700 CausalMutation CLINVAR HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 9694858

1998