|
rs1805128
|
|
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 |
|
rs1805128
|
|
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 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Compound mutations: a common cause of severe long-QT syndrome.
|
15051636 |
2004 |
|
rs1805128
|
|
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 |
|
rs1805128
|
|
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 |
|
rs1805128
|
|
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 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
|
24561134 |
2014 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
|
24400172 |
2013 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
|
12566567 |
2003 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.
|
11874988 |
2002 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants.
|
10428953 |
1999 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
|
10400998 |
1999 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
|
9445165 |
1998 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
|
9354783 |
1997 |
|
rs74315445
|
|
Long QT Syndrome
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
|
9354802 |
1997 |
|
rs1131691762
|
|
Long QT Syndrome
|
TA |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
rs1131691762
|
|
Long QT Syndrome
|
TA |
0.700 |
GeneticVariation
|
CLINVAR |
Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
|
24400172 |
2013 |
|
rs1131691762
|
|
Long QT Syndrome
|
TA |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs1131691762
|
|
Long QT Syndrome
|
TA |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
|
9354802 |
1997 |
|
rs1555843953
|
|
Long QT Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
rs1555843953
|
|
Long QT Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
|
24561134 |
2014 |
|
rs1555843953
|
|
Long QT Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |