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rs120074180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074180(C;T)
Make rs120074180(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572882
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074180
ebirs120074180
HLIrs120074180
Exacrs120074180
Varsomers120074180
Maprs120074180
PheGenIrs120074180
hapmaprs120074180
1000 genomesrs120074180
hgdprs120074180
ensemblrs120074180
gopubmedrs120074180
geneviewrs120074180
scholarrs120074180
googlers120074180
pharmgkbrs120074180
gwascentralrs120074180
openSNPrs120074180
23andMers120074180
23andMe allrs120074180
SNP Nexus

SNPshotrs120074180
SNPdbers120074180
MSV3drs120074180
GWAS Ctlgrs120074180
Max Magnitude0
OMIM607542
Desc
Variant0006
Relatedalso
ClinVar
Risk rs120074180(T;T)
Alt rs120074180(T;T)
Reference rs120074180(C;C)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2594112C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003266.2, RCV000046135.2, RCV000057769.2, RCV000182120.2,


[PMID 1584047] Simultaneous analysis for testing of models and parameter estimation.


[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.


[PMID 9323054] Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.


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


[PMID 11216980] A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.


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