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rs199473441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473441(A;G)
Make rs199473441(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445099
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473441
dbSNP (classic)rs199473441
ClinGenrs199473441
ebirs199473441
HLIrs199473441
Exacrs199473441
Gnomadrs199473441
Varsomers199473441
LitVarrs199473441
Maprs199473441
PheGenIrs199473441
Biobankrs199473441
1000 genomesrs199473441
hgdprs199473441
ensemblrs199473441
geneviewrs199473441
scholarrs199473441
googlers199473441
pharmgkbrs199473441
gwascentralrs199473441
openSNPrs199473441
23andMers199473441
SNPshotrs199473441
SNPdbers199473441
MSV3drs199473441
GWAS Ctlgrs199473441
Max Magnitude0
ClinVar
Risk rs199473441(G;G) rs199473441(T;T)
Alt rs199473441(G;G) rs199473441(T;T)
Reference Rs199473441(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466329A>G; NC_000011.9:g.2466329A>T
CLNSRC ClinVar
CLNACC RCV000057654.3, RCV000206337.2,