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rs140452381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140452381(C;T)
Make rs140452381(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2588815
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs140452381
ebirs140452381
HLIrs140452381
Exacrs140452381
Varsomers140452381
Maprs140452381
PheGenIrs140452381
hapmaprs140452381
1000 genomesrs140452381
hgdprs140452381
ensemblrs140452381
gopubmedrs140452381
geneviewrs140452381
scholarrs140452381
googlers140452381
pharmgkbrs140452381
gwascentralrs140452381
openSNPrs140452381
23andMers140452381
23andMe allrs140452381
SNP Nexus

SNPshotrs140452381
SNPdbers140452381
MSV3drs140452381
GWAS Ctlgrs140452381
Max Magnitude0
ClinVar
Risk rs140452381(T;T)
Alt rs140452381(T;T)
Reference rs140452381(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome not specified not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome not specified not provided
Reversed 0
HGVS NC_000011.9:g.2610045C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000045984.2, RCV000057582.2, RCV000148551.1, RCV000182188.2, RCV000224680.1,