Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472968
rs199472968
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 GeneticVariation BEFREE Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. 12062363

2002