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rs199473483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473483(C;T)
Make rs199473483(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2778014
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473483
ebirs199473483
HLIrs199473483
Exacrs199473483
Varsomers199473483
Maprs199473483
PheGenIrs199473483
hapmaprs199473483
1000 genomesrs199473483
hgdprs199473483
ensemblrs199473483
gopubmedrs199473483
geneviewrs199473483
scholarrs199473483
googlers199473483
pharmgkbrs199473483
gwascentralrs199473483
openSNPrs199473483
23andMers199473483
23andMe allrs199473483
SNP Nexus

SNPshotrs199473483
SNPdbers199473483
MSV3drs199473483
GWAS Ctlgrs199473483
Max Magnitude0
ClinVar
Risk rs199473483(T;T)
Alt rs199473483(T;T)
Reference rs199473483(C;C)
Significance Probable-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.2799244C>T
CLNSRC ClinVar
CLNACC RCV000046028.2, RCV000057635.2,