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rs199473472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473472(A;A)
Make rs199473472(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585294
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473472
ebirs199473472
HLIrs199473472
Exacrs199473472
Varsomers199473472
Maprs199473472
PheGenIrs199473472
hapmaprs199473472
1000 genomesrs199473472
hgdprs199473472
ensemblrs199473472
gopubmedrs199473472
geneviewrs199473472
scholarrs199473472
googlers199473472
pharmgkbrs199473472
gwascentralrs199473472
openSNPrs199473472
23andMers199473472
23andMe allrs199473472
SNP Nexus

SNPshotrs199473472
SNPdbers199473472
MSV3drs199473472
GWAS Ctlgrs199473472
Max Magnitude0
ClinVar
Risk rs199473472(A;A)
Alt rs199473472(A;A)
Reference rs199473472(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.2606524C>A
CLNSRC ClinVar
CLNACC RCV000045964.2, RCV000057556.2,