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rs120074182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074182(C;T)
Make rs120074182(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583448
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074182
ebirs120074182
HLIrs120074182
Exacrs120074182
Varsomers120074182
Maprs120074182
PheGenIrs120074182
hapmaprs120074182
1000 genomesrs120074182
hgdprs120074182
ensemblrs120074182
gopubmedrs120074182
geneviewrs120074182
scholarrs120074182
googlers120074182
pharmgkbrs120074182
gwascentralrs120074182
openSNPrs120074182
23andMers120074182
23andMe allrs120074182
SNP Nexus

SNPshotrs120074182
SNPdbers120074182
MSV3drs120074182
GWAS Ctlgrs120074182
Max Magnitude0
OMIM607542
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074182(T;T)
Alt rs120074182(T;T)
Reference rs120074182(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.2604678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003263.2, RCV000046165.2, RCV000057808.2, RCV000182136.2,


[PMID 1546664] Intraaortic debris as a potential source of embolic stroke.


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


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.