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rs199472713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472713(C;T)
Make rs199472713(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572056
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472713
ebirs199472713
HLIrs199472713
Exacrs199472713
Varsomers199472713
Maprs199472713
PheGenIrs199472713
hapmaprs199472713
1000 genomesrs199472713
hgdprs199472713
ensemblrs199472713
gopubmedrs199472713
geneviewrs199472713
scholarrs199472713
googlers199472713
pharmgkbrs199472713
gwascentralrs199472713
openSNPrs199472713
23andMers199472713
23andMe allrs199472713
SNP Nexus

SNPshotrs199472713
SNPdbers199472713
MSV3drs199472713
GWAS Ctlgrs199472713
Max Magnitude0
ClinVar
Risk rs199472713(A,T;A,T)
Alt rs199472713(A,T;A,T)
Reference rs199472713(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2593286C>A; NC_000011.9:g.2593286C>T
CLNSRC ClinVar
CLNACC RCV000057740.2, RCV000046111.3, RCV000057741.2,


[PMID 15466] Analysis of employment turnover and job satisfaction of physician's assistants graduated from the Physician's Assistant Program of the University of Alabama in Birmingham, 1972-1975.


[PMID 10409658] Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.


[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.


[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.


[PMID 19490272] Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.