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rs199473481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473481(C;C)
Make rs199473481(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776030
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473481
ebirs199473481
HLIrs199473481
Exacrs199473481
Varsomers199473481
Maprs199473481
PheGenIrs199473481
hapmaprs199473481
1000 genomesrs199473481
hgdprs199473481
ensemblrs199473481
gopubmedrs199473481
geneviewrs199473481
scholarrs199473481
googlers199473481
pharmgkbrs199473481
gwascentralrs199473481
openSNPrs199473481
23andMers199473481
23andMe allrs199473481
SNP Nexus

SNPshotrs199473481
SNPdbers199473481
MSV3drs199473481
GWAS Ctlgrs199473481
Max Magnitude0
ClinVar
Risk rs199473481(C;C)
Alt rs199473481(C;C)
Reference rs199473481(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.2797260T>C
CLNSRC ClinVar
CLNACC RCV000046010.2, RCV000057611.2,