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rs199472762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472762(C;T)
Make rs199472762(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583540
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472762
ebirs199472762
HLIrs199472762
Exacrs199472762
Varsomers199472762
Maprs199472762
PheGenIrs199472762
hapmaprs199472762
1000 genomesrs199472762
hgdprs199472762
ensemblrs199472762
gopubmedrs199472762
geneviewrs199472762
scholarrs199472762
googlers199472762
pharmgkbrs199472762
gwascentralrs199472762
openSNPrs199472762
23andMers199472762
23andMe allrs199472762
SNP Nexus

SNPshotrs199472762
SNPdbers199472762
MSV3drs199472762
GWAS Ctlgrs199472762
Max Magnitude0
ClinVar
Risk rs199472762(T;T)
Alt rs199472762(T;T)
Reference rs199472762(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.2604770C>T
CLNSRC ClinVar
CLNACC RCV000045935.2, RCV000057530.2,


[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.


[PMID 15511625] Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.


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