Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N. 24499369

2014
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR D85N, a KCNE1 polymorphism, is known to be a functional variant associated with drug-induced LQTS. 19695459

2009
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488

2004
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677

2003
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 SusceptibilityMutation CLINVAR Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. 10807545

2000
dbSNP: rs1805128
rs1805128
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.750 GeneticVariation CLINVAR