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rs199473443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473443(C;T)
Make rs199473443(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445117
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473443
ebirs199473443
HLIrs199473443
Exacrs199473443
Varsomers199473443
Maprs199473443
PheGenIrs199473443
hapmaprs199473443
1000 genomesrs199473443
hgdprs199473443
ensemblrs199473443
gopubmedrs199473443
geneviewrs199473443
scholarrs199473443
googlers199473443
pharmgkbrs199473443
gwascentralrs199473443
openSNPrs199473443
23andMers199473443
23andMe allrs199473443
SNP Nexus

SNPshotrs199473443
SNPdbers199473443
MSV3drs199473443
GWAS Ctlgrs199473443
Max Magnitude0
ClinVar
Risk rs199473443(T;T)
Alt rs199473443(T;T)
Reference rs199473443(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.2466347C>T
CLNSRC ClinVar
CLNACC RCV000046041.2, RCV000057653.2,