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rs199473453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473453(A;A)
Make rs199473453(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570628
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473453
ebirs199473453
HLIrs199473453
Exacrs199473453
Varsomers199473453
Maprs199473453
PheGenIrs199473453
hapmaprs199473453
1000 genomesrs199473453
hgdprs199473453
ensemblrs199473453
gopubmedrs199473453
geneviewrs199473453
scholarrs199473453
googlers199473453
pharmgkbrs199473453
gwascentralrs199473453
openSNPrs199473453
23andMers199473453
23andMe allrs199473453
SNP Nexus

SNPshotrs199473453
SNPdbers199473453
MSV3drs199473453
GWAS Ctlgrs199473453
Max Magnitude0
ClinVar
Risk rs199473453(A;A)
Alt rs199473453(A;A)
Reference rs199473453(G;G)
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.2591858G>A
CLNSRC ClinVar
CLNACC RCV000046063.2, RCV000057681.2,