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rs120074181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074181(A;A)
Make rs120074181(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572981
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074181
ebirs120074181
HLIrs120074181
Exacrs120074181
Varsomers120074181
Maprs120074181
PheGenIrs120074181
hapmaprs120074181
1000 genomesrs120074181
hgdprs120074181
ensemblrs120074181
gopubmedrs120074181
geneviewrs120074181
scholarrs120074181
googlers120074181
pharmgkbrs120074181
gwascentralrs120074181
openSNPrs120074181
23andMers120074181
23andMe allrs120074181
SNP Nexus

SNPshotrs120074181
SNPdbers120074181
MSV3drs120074181
GWAS Ctlgrs120074181
Max Magnitude0
OMIM607542
Desc
Variant0007
Relatedalso
ClinVar
Risk rs120074181(A,C;A,C)
Alt rs120074181(A,C;A,C)
Reference rs120074181(G;G)
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.2594211G>A; NC_000011.9:g.2594211G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003262.2, RCV000046152.2, RCV000057797.2, RCV000182132.2, RCV000057798.2,


[PMID 10376919] Functional effects of mutations in KvLQT1 that cause 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.


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


[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.