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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
SADR3784
HugeNav3784
wikipediaKCNQ1
googleKCNQ1
gopubmedKCNQ1
EVSKCNQ1
HEFalMpKCNQ1
MyGene2KCNQ1
23andMeKCNQ1
UniProtP51787
EnsemblENSG00000053918
OMIM607542
# SNPs422
 Max MagnitudeChromosome positionSummary
rs10489425202,570,715
rs10489425502,583,459
rs105712802,776,007
rs107982,848,935
rs108324172,631,427
rs1089612,736,755
rs110234852,618,482
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
rs12007419002,778,009
rs12007419102,445,448
rs12007419202,527,959
rs12007419302,572,870
rs12007419402,572,871
rs12007419502,572,984
rs12007419602,572,057
rs122960502,468,112
rs125762392,481,089
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
rs14908981702,588,797
rs15017239302,570,733
rs1512902,800,385
rs15134463102,571,333
rs1631822,822,986
rs1631842,825,839
rs169282972,464,890
rs1721547902,571,363
rs1721550002,768,881
rs1722185442,777,990
rs1794292,529,500
... further results


Associated with long QT syndrome LQTS and deafness;

Publications[edit]

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

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

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

[PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death 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 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)