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rs120074184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074184(A;A)
Make rs120074184(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583453
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074184
ebirs120074184
HLIrs120074184
Exacrs120074184
Varsomers120074184
Maprs120074184
PheGenIrs120074184
hapmaprs120074184
1000 genomesrs120074184
hgdprs120074184
ensemblrs120074184
gopubmedrs120074184
geneviewrs120074184
scholarrs120074184
googlers120074184
pharmgkbrs120074184
gwascentralrs120074184
openSNPrs120074184
23andMers120074184
23andMe allrs120074184
SNP Nexus

SNPshotrs120074184
SNPdbers120074184
MSV3drs120074184
GWAS Ctlgrs120074184
Max Magnitude0
OMIM607542
Desc
Variant0012
Relatedalso
ClinVar
Risk rs120074184(A,C,T;A,C,T)
Alt rs120074184(A,C,T;A,C,T)
Reference rs120074184(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.2604683G>A; NC_000011.9:g.2604683G>C; NC_000011.9:g.2604683G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003271.2, RCV000046167.2, RCV000057810.2, RCV000182137.2, RCV000046168.2, RCV000057811.2, RCV000046169.2, RCV000057812.2,


[PMID 8872472] KVLQT1 mutations in three families with familial or sporadic long QT syndrome.


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


[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.


[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.


[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.


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


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


[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 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.