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rs199473394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473394(A;A)
Make rs199473394(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570685
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473394
ebirs199473394
HLIrs199473394
Exacrs199473394
Varsomers199473394
Maprs199473394
PheGenIrs199473394
hapmaprs199473394
1000 genomesrs199473394
hgdprs199473394
ensemblrs199473394
gopubmedrs199473394
geneviewrs199473394
scholarrs199473394
googlers199473394
pharmgkbrs199473394
gwascentralrs199473394
openSNPrs199473394
23andMers199473394
23andMe allrs199473394
SNP Nexus

SNPshotrs199473394
SNPdbers199473394
MSV3drs199473394
GWAS Ctlgrs199473394
Max Magnitude0
ClinVar
Risk rs199473394(A;A)
Alt rs199473394(A;A)
Reference rs199473394(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2591915G>A
CLNSRC Sir Ganga Ram Hospital
CLNACC RCV000046078.2, RCV000057694.2, RCV000148544.1, RCV000234794.1,