Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 GeneticVariation BEFREE Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. 18808722

2008
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 GeneticVariation BEFREE A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome. 17560885

2007
dbSNP: rs28928905
rs28928905
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 GeneticVariation BEFREE We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome. 11170080

2001