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rs199472696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472696(C;T)
Make rs199472696(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570670
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472696
ebirs199472696
HLIrs199472696
Exacrs199472696
Varsomers199472696
Maprs199472696
PheGenIrs199472696
hapmaprs199472696
1000 genomesrs199472696
hgdprs199472696
ensemblrs199472696
gopubmedrs199472696
geneviewrs199472696
scholarrs199472696
googlers199472696
pharmgkbrs199472696
gwascentralrs199472696
openSNPrs199472696
23andMers199472696
23andMe allrs199472696
SNP Nexus

SNPshotrs199472696
SNPdbers199472696
MSV3drs199472696
GWAS Ctlgrs199472696
Max Magnitude0
ClinVar
Risk rs199472696(T;T)
Alt rs199472696(T;T)
Reference rs199472696(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591900C>T
CLNSRC ClinVar
CLNACC RCV000046072.2, RCV000057689.2, RCV000182078.2,


[PMID 199346] Perianal mucinous adenocarcinoma.


[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 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.


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


[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.