Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805128
rs1805128
KCNE1
0.750 GeneticVariation BEFREE Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing. 29625280

2018
dbSNP: rs1805128
rs1805128
KCNE1
0.750 GeneticVariation BEFREE Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil. 24499369

2014
dbSNP: rs1805128
rs1805128
KCNE1
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
0.750 GeneticVariation BEFREE Screening of the genotype disclosed the KCNE1 D85N polymorphism, which is known as one of the typical disease-causing gene variants in long-QT syndrome (LQTS). 22999324

2013
dbSNP: rs1805128
rs1805128
KCNE1
0.750 GeneticVariation BEFREE Our data warrant additional studies on the role of KCNE1 D85N in other genetically homogeneous groups of LQTS patients. 21244686

2011
dbSNP: rs1805128
rs1805128
KCNE1
0.750 GeneticVariation BEFREE The KCNE1-D85N polymorphism was significantly more frequent in our LQTS probands. 19695459

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

2004
dbSNP: rs1805128
rs1805128
KCNE1
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
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
T 0.750 GeneticVariation CLINVAR