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rs199473399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473399(C;C)
Make rs199473399(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570710
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473399
dbSNP (classic)rs199473399
ClinGenrs199473399
ebirs199473399
HLIrs199473399
Exacrs199473399
Gnomadrs199473399
Varsomers199473399
LitVarrs199473399
Maprs199473399
PheGenIrs199473399
Biobankrs199473399
1000 genomesrs199473399
hgdprs199473399
ensemblrs199473399
geneviewrs199473399
scholarrs199473399
googlers199473399
pharmgkbrs199473399
gwascentralrs199473399
openSNPrs199473399
23andMers199473399
SNPshotrs199473399
SNPdbers199473399
MSV3drs199473399
GWAS Ctlgrs199473399
Max Magnitude0
ClinVar
Risk rs199473399(C;C)
Alt rs199473399(C;C)
Reference Rs199473399(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591940T>C
CLNSRC ClinVar
CLNACC RCV000046081.4, RCV000057701.3, RCV000182084.1,