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rs199473446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473446(C;T)
Make rs199473446(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445295
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473446
ebirs199473446
HLIrs199473446
Exacrs199473446
Varsomers199473446
Maprs199473446
PheGenIrs199473446
hapmaprs199473446
1000 genomesrs199473446
hgdprs199473446
ensemblrs199473446
gopubmedrs199473446
geneviewrs199473446
scholarrs199473446
googlers199473446
pharmgkbrs199473446
gwascentralrs199473446
openSNPrs199473446
23andMers199473446
23andMe allrs199473446
SNP Nexus

SNPshotrs199473446
SNPdbers199473446
MSV3drs199473446
GWAS Ctlgrs199473446
Max Magnitude0
ClinVar
Risk rs199473446(T;T)
Alt rs199473446(T;T)
Reference rs199473446(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466525C>T
CLNSRC ClinVar
CLNACC RCV000057652.2,