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rs120074196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074196(C;C)
Make rs120074196(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572057
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074196
ebirs120074196
HLIrs120074196
Exacrs120074196
Varsomers120074196
Maprs120074196
PheGenIrs120074196
hapmaprs120074196
1000 genomesrs120074196
hgdprs120074196
ensemblrs120074196
gopubmedrs120074196
geneviewrs120074196
scholarrs120074196
googlers120074196
pharmgkbrs120074196
gwascentralrs120074196
openSNPrs120074196
23andMers120074196
23andMe allrs120074196
SNP Nexus

SNPshotrs120074196
SNPdbers120074196
MSV3drs120074196
GWAS Ctlgrs120074196
Max Magnitude0
OMIM607542
Desc
Variant0039
Relatedalso
ClinVar
Risk rs120074196(A,C;A,C)
Alt rs120074196(A,C;A,C)
Reference rs120074196(G;G)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2 Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2, digenic Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2593287G>A; NC_000011.9:g.2593287G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000046112.2, RCV000057742.2, RCV000003300.2, RCV000046114.3, RCV000057743.2,


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


[PMID 181742] The nature of the phosphorus linkage in component I, a phosphoprotein isolated from the blood serum of DES-treated cockerels.


[PMID 9482580] Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.


[PMID 10090886OA-icon.png] Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.


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


[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.


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