Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.820 GeneticVariation BEFREE In female transgenic LQT2 rabbits (HERG-G628S, loss of IKr), hormone effects on QT/action potential duration (APD) were assessed (0.2-200 ng/L). 30938413

2019
dbSNP: rs121912507
rs121912507
KCNH2
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.820 GeneticVariation BEFREE In the present study, we investigated the functional consequences of the LQT2 mutation G628S in the hERG1b and hERG1a(USO) isoforms. 22876326

2012