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rs794728513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Romano-Ward Long QT Syndrome
Make rs794728513(C;T)
Make rs794728513(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572087
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs794728513
dbSNP (classic)rs794728513
ClinGenrs794728513
ebirs794728513
HLIrs794728513
Exacrs794728513
Gnomadrs794728513
Varsomers794728513
LitVarrs794728513
Maprs794728513
PheGenIrs794728513
Biobankrs794728513
1000 genomesrs794728513
hgdprs794728513
ensemblrs794728513
geneviewrs794728513
scholarrs794728513
googlers794728513
pharmgkbrs794728513
gwascentralrs794728513
openSNPrs794728513
23andMers794728513
SNPshotrs794728513
SNPdbers794728513
MSV3drs794728513
GWAS Ctlgrs794728513
Max Magnitude5
ClinVar
Risk rs794728513(G;G) rs794728513(T;T)
Alt rs794728513(G;G) rs794728513(T;T)
Reference Rs794728513(C;C)
Significance Pathogenic
Disease Long QT syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2593317C>G; NC_000011.9:g.2593317C>T
CLNSRC
CLNACC RCV000234788.1, RCV000182108.2,