Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074177(C;C)
Make rs120074177(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570682
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074177
ebirs120074177
HLIrs120074177
Exacrs120074177
Varsomers120074177
Maprs120074177
PheGenIrs120074177
hapmaprs120074177
1000 genomesrs120074177
hgdprs120074177
ensemblrs120074177
gopubmedrs120074177
geneviewrs120074177
scholarrs120074177
googlers120074177
pharmgkbrs120074177
gwascentralrs120074177
openSNPrs120074177
23andMers120074177
23andMe allrs120074177
SNP Nexus

SNPshotrs120074177
SNPdbers120074177
MSV3drs120074177
GWAS Ctlgrs120074177
Max Magnitude0
OMIM607542
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074177(A,C;A,C)
Alt rs120074177(A,C;A,C)
Reference rs120074177(G;G)
Significance Other
Disease Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2591912G>A; NC_000011.9:g.2591912G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000057692.2, RCV000148553.2, RCV000182081.2, RCV000003260.2, RCV000046076.2, RCV000057693.2,


[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 9024139] Four novel KVLQT1 and four novel HERG mutations in familial 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.