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rs120074179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074179(A;A)
Make rs120074179(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572089
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074179
ebirs120074179
HLIrs120074179
Exacrs120074179
Varsomers120074179
Maprs120074179
PheGenIrs120074179
hapmaprs120074179
1000 genomesrs120074179
hgdprs120074179
ensemblrs120074179
gopubmedrs120074179
geneviewrs120074179
scholarrs120074179
googlers120074179
pharmgkbrs120074179
gwascentralrs120074179
openSNPrs120074179
23andMers120074179
23andMe allrs120074179
SNP Nexus

SNPshotrs120074179
SNPdbers120074179
MSV3drs120074179
GWAS Ctlgrs120074179
Max Magnitude0
OMIM607542
Desc
Variant0005
Relatedalso
ClinVar
Risk rs120074179(A,C,T;A,C,T)
Alt rs120074179(A,C,T;A,C,T)
Reference rs120074179(G;G)
Significance Other
Disease Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome, LQT1 subtype Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2593319G>A; NC_000011.9:g.2593319G>C; NC_000011.9:g.2593319G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003265.2, RCV000003296.2, RCV000057749.2, RCV000182109.2, RCV000190212.2, RCV000057750.2, RCV000046119.2, RCV000057751.2, RCV000182110.1,


[PMID 1475667] [Periodontitis and caries--"God's punishment"?].


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


[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.


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


[PMID 12820704] Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.


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


[PMID 16414944] Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.