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rs794728549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728549(A;A)
Make rs794728549(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2527923
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs794728549
dbSNP (classic)rs794728549
ClinGenrs794728549
ebirs794728549
HLIrs794728549
Exacrs794728549
Gnomadrs794728549
Varsomers794728549
LitVarrs794728549
Maprs794728549
PheGenIrs794728549
Biobankrs794728549
1000 genomesrs794728549
hgdprs794728549
ensemblrs794728549
geneviewrs794728549
scholarrs794728549
googlers794728549
pharmgkbrs794728549
gwascentralrs794728549
openSNPrs794728549
23andMers794728549
SNPshotrs794728549
SNPdbers794728549
MSV3drs794728549
GWAS Ctlgrs794728549
Max Magnitude0
ClinVar
Risk rs794728549(A;A)
Alt rs794728549(A;A)
Reference Rs794728549(T;T)
Significance Pathogenic
Disease Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2549153T>A
CLNSRC
CLNACC RCV000477502.1,