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rs199473457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473457(C;T)
Make rs199473457(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572020
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473457
ebirs199473457
HLIrs199473457
Exacrs199473457
Varsomers199473457
Maprs199473457
PheGenIrs199473457
hapmaprs199473457
1000 genomesrs199473457
hgdprs199473457
ensemblrs199473457
gopubmedrs199473457
geneviewrs199473457
scholarrs199473457
googlers199473457
pharmgkbrs199473457
gwascentralrs199473457
openSNPrs199473457
23andMers199473457
23andMe allrs199473457
SNP Nexus

SNPshotrs199473457
SNPdbers199473457
MSV3drs199473457
GWAS Ctlgrs199473457
Max Magnitude0
ClinVar
Risk rs199473457(T;T)
Alt rs199473457(T;T)
Reference rs199473457(C;C)
Significance Pathogenic
Disease KCNQ1-related acquired long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN KCNQ1-related acquired long QT syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2593250C>T
CLNSRC ClinVar
CLNACC RCV000046106.2, RCV000057733.2, RCV000182100.2,


[PMID 19843] Eschaemia during arterial reconstructive surgery. Biochemical changes as reflected in popliteal vein samples.


[PMID 12205790] [Congenital long QT syndrome in newborns].


[PMID 14998624] Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.


[PMID 15176425] 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.


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.