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KCNQ1

From SNPedia
is agene
is mentioned by
Full namepotassium voltage-gated channel, KQT-like subfamily, member 1
EntrezGene3784
PheGenI3784
VariationViewer3784
ClinVarKCNQ1
GeneCardsKCNQ1
dbSNP3784
DiseasesKCNQ1
SADR3784
HugeNav3784
wikipediaKCNQ1
googleKCNQ1
gopubmedKCNQ1
EVSKCNQ1
HEFalMpKCNQ1
MyGene2KCNQ1
23andMeKCNQ1
UniProtP51787
EnsemblENSG00000053918
OMIM607542
# SNPs448
 Max MagnitudeChromosome positionSummary
i5004485
rs10489425202,570,715
rs10489425502,583,459
rs105712802,776,007
rs105751958402,572,900
rs105752062302,572,908
rs106050062302,445,298
rs106050062602,572,074
rs106050062802,572,062
rs106050062902,587,616
rs106479453802,571,342
rs106479533302,528,009
rs106479635302,572,915
rs1079802,848,935
rs1083241702,631,427
rs108530796502,585,255
rs10896102,736,755
rs1102348502,618,482
rs1160190712,847,958
rs12007417702,570,682
rs12007417802,570,719
rs12007417902,572,089
rs12007418002,572,882
rs12007418102,572,981
rs12007418202,583,448
rs12007418302,585,213
rs12007418402,583,453
rs12007418502,776,032
rs12007418602,572,979
rs12007418702,572,963
rs12007418802,768,902
rs12007418902,778,003
rs12007419052,778,009
rs12007419102,445,448
rs12007419252,527,959
rs12007419302,572,870
rs12007419402,572,871
rs12007419502,572,984
rs12007419602,572,057
rs1229605002,468,112
rs1257623902,481,089
rs1272044902,588,804
rs1272045802,585,264
rs1272045952,583,535Long QT syndrome
rs13855100802,775,977
rs13904252902,570,663
rs14045238102,588,815
rs14522996302,588,816
rs14597493002,768,882
rs14744532202,847,803
... further results


Associated with long QT syndrome LQTS and deafness;

Publications[edit]

[PMID 31520628] Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.

[PMID 29740400OA-icon.png] The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

[PMID 29622001OA-icon.png] Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

[PMID 29355047] Type 1 long QT syndrome and psychological stress in a laboratory setting.

[PMID 27998949OA-icon.png] Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"

[PMID 27613431] Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.

[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

[PMID 27460199] The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths.

[PMID 26063740] Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

[PMID 25737393OA-icon.png] Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

[PMID 24270299] Work stress and the long QT syndrome: high job strain and effort-reward imbalance at work associated with arrhythmic risk in the long QT syndrome.

[PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.

[PMID 23856471OA-icon.png] Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

[PMID 23459443] Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.

[PMID 21496168] Epinephrine bolus test in detecting long QT syndrome mutation carriers with indeterminable electrocardiographic phenotype.

[PMID 21244686] KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

[PMID 21138517] Comparison of QT peak and QT end interval responses to autonomic adaptation in asymptomatic LQT1 mutation carriers.

[PMID 20659946] A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.

[PMID 20566482] Abnormal repolarization dynamics revealed in exercise test in long QT syndrome mutation carriers with normal resting QT interval.

[PMID 20186784] Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

[PMID 19808498OA-icon.png] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. (9 KCNQ1 missense mutationsː A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546)

[PMID 19160088OA-icon.png] High prevalence of four long QT syndrome founder mutations in the Finnish population.

[PMID 18365896] Electrocardiographic interventricular dispersion of repolarization during autonomic adaptation in LQT1 subtype of long QT syndrome.

[PMID 17984373] The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

[PMID 17467628] Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.

[PMID 17192539] Female predominance and transmission distortion in the long-QT syndrome.

[PMID 17023080] Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.

[PMID 16882680] Effect of physical training on ventricular repolarization in type 1 long QT syndrome: a pilot study in asymptomatic carriers of the G589D KCNQ1 mutation.

[PMID 16754261] Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

[PMID 16754261] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.