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rs199473458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473458(C;C)
Make rs199473458(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572045
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473458
ebirs199473458
HLIrs199473458
Exacrs199473458
Varsomers199473458
Maprs199473458
PheGenIrs199473458
hapmaprs199473458
1000 genomesrs199473458
hgdprs199473458
ensemblrs199473458
gopubmedrs199473458
geneviewrs199473458
scholarrs199473458
googlers199473458
pharmgkbrs199473458
gwascentralrs199473458
openSNPrs199473458
23andMers199473458
23andMe allrs199473458
SNP Nexus

SNPshotrs199473458
SNPdbers199473458
MSV3drs199473458
GWAS Ctlgrs199473458
Max Magnitude0
ClinVar
Risk rs199473458(C;C)
Alt rs199473458(C;C)
Reference rs199473458(T;T)
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.2593275T>C
CLNSRC ClinVar
CLNACC RCV000046109.2, RCV000057736.2,