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rs199473398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473398(C;C)
Make rs199473398(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570706
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473398
ebirs199473398
HLIrs199473398
Exacrs199473398
Varsomers199473398
Maprs199473398
PheGenIrs199473398
hapmaprs199473398
1000 genomesrs199473398
hgdprs199473398
ensemblrs199473398
gopubmedrs199473398
geneviewrs199473398
scholarrs199473398
googlers199473398
pharmgkbrs199473398
gwascentralrs199473398
openSNPrs199473398
23andMers199473398
23andMe allrs199473398
SNP Nexus

SNPshotrs199473398
SNPdbers199473398
MSV3drs199473398
GWAS Ctlgrs199473398
Max Magnitude0
ClinVar
Risk rs199473398(A,C;A,C)
Alt rs199473398(A,C;A,C)
Reference rs199473398(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2591936G>A; NC_000011.9:g.2591936G>C
CLNSRC ClinVar
CLNACC RCV000057699.2, RCV000046080.2, RCV000057700.2,