Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9333649
rs9333649
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome. 20931094

2010
dbSNP: rs9333649
rs9333649
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633

2000