Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472942
rs199472942
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 GeneticVariation BEFREE Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. 15500450

2005