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rs199473476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473476(C;T)
Make rs199473476(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2588824
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473476
ebirs199473476
HLIrs199473476
Exacrs199473476
Varsomers199473476
Maprs199473476
PheGenIrs199473476
hapmaprs199473476
1000 genomesrs199473476
hgdprs199473476
ensemblrs199473476
gopubmedrs199473476
geneviewrs199473476
scholarrs199473476
googlers199473476
pharmgkbrs199473476
gwascentralrs199473476
openSNPrs199473476
23andMers199473476
23andMe allrs199473476
SNP Nexus

SNPshotrs199473476
SNPdbers199473476
MSV3drs199473476
GWAS Ctlgrs199473476
Max Magnitude0
ClinVar
Risk rs199473476(T;T)
Alt rs199473476(T;T)
Reference rs199473476(C;C)
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.2610054C>T
CLNSRC ClinVar
CLNACC RCV000045985.2, RCV000057584.2,