Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928904
rs28928904
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways. 16244363

2005
dbSNP: rs28928904
rs28928904
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE The Ile593Arg mutation may result in a change in potassium selectivity and permeability leading to a loss of HERG function, thereby resulting in LQT. 8635257

1996