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rs199473467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473467(A;A)
Make rs199473467(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583436
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473467
ebirs199473467
HLIrs199473467
Exacrs199473467
Varsomers199473467
Maprs199473467
PheGenIrs199473467
hapmaprs199473467
1000 genomesrs199473467
hgdprs199473467
ensemblrs199473467
gopubmedrs199473467
geneviewrs199473467
scholarrs199473467
googlers199473467
pharmgkbrs199473467
gwascentralrs199473467
openSNPrs199473467
23andMers199473467
23andMe allrs199473467
SNP Nexus

SNPshotrs199473467
SNPdbers199473467
MSV3drs199473467
GWAS Ctlgrs199473467
Max Magnitude0
ClinVar
Risk rs199473467(A;A)
Alt rs199473467(A;A)
Reference rs199473467(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.2604666T>A
CLNSRC ClinVar
CLNACC RCV000046160.2, RCV000057801.2,