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rs120074190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074190(A;A)
Make rs120074190(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2778009
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074190
ebirs120074190
HLIrs120074190
Exacrs120074190
Varsomers120074190
Maprs120074190
PheGenIrs120074190
hapmaprs120074190
1000 genomesrs120074190
hgdprs120074190
ensemblrs120074190
gopubmedrs120074190
geneviewrs120074190
scholarrs120074190
googlers120074190
pharmgkbrs120074190
gwascentralrs120074190
openSNPrs120074190
23andMers120074190
23andMe allrs120074190
SNP Nexus

SNPshotrs120074190
SNPdbers120074190
MSV3drs120074190
GWAS Ctlgrs120074190
Max Magnitude0
OMIM607542
Desc
Variant0029
Relatedalso
ClinVar
Risk rs120074190(A;A)
Alt rs120074190(A;A)
Reference rs120074190(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2799239G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003288.2, RCV000003289.2, RCV000057633.2, RCV000182223.2,


[PMID 19160] [Properties of chlorotetrolic acid and its ester as possible protein acetylenic reagents].


[PMID 10483966] Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.


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


[PMID 12477631] Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation.


[PMID 12690509] Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.


[PMID 17329209OA-icon.png] A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila.