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

rs120074193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074193(A;A)
Make rs120074193(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572870
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074193
ebirs120074193
HLIrs120074193
Exacrs120074193
Varsomers120074193
Maprs120074193
PheGenIrs120074193
hapmaprs120074193
1000 genomesrs120074193
hgdprs120074193
ensemblrs120074193
gopubmedrs120074193
geneviewrs120074193
scholarrs120074193
googlers120074193
pharmgkbrs120074193
gwascentralrs120074193
openSNPrs120074193
23andMers120074193
23andMe allrs120074193
SNP Nexus

SNPshotrs120074193
SNPdbers120074193
MSV3drs120074193
GWAS Ctlgrs120074193
Max Magnitude0
OMIM607542
Desc
Variant0033
Relatedalso
ClinVar
Risk rs120074193(A,C;A,C)
Alt rs120074193(A,C;A,C)
Reference rs120074193(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2594100G>A; NC_000011.9:g.2594100G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003294.2, RCV000057765.2, RCV000182118.2, RCV000182306.1,


[PMID 15466] Analysis of employment turnover and job satisfaction of physician's assistants graduated from the Physician's Assistant Program of the University of Alabama in Birmingham, 1972-1975.

[PMID 10560595] Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

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

[PMID 12205113OA-icon.png] Mutation in KCNQ1 that has both recessive and dominant characteristics.

[PMID 12702160OA-icon.png] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

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