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rs199473474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473474(C;T)
Make rs199473474(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2587613
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473474
ebirs199473474
HLIrs199473474
Exacrs199473474
Varsomers199473474
Maprs199473474
PheGenIrs199473474
hapmaprs199473474
1000 genomesrs199473474
hgdprs199473474
ensemblrs199473474
gopubmedrs199473474
geneviewrs199473474
scholarrs199473474
googlers199473474
pharmgkbrs199473474
gwascentralrs199473474
openSNPrs199473474
23andMers199473474
23andMe allrs199473474
SNP Nexus

SNPshotrs199473474
SNPdbers199473474
MSV3drs199473474
GWAS Ctlgrs199473474
Max Magnitude0
ClinVar
Risk rs199473474(T;T)
Alt rs199473474(T;T)
Reference rs199473474(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2608843C>T
CLNSRC ClinVar
CLNACC RCV000045971.2, RCV000057567.2,


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


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.