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rs794728570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794728570(A;C)
Make rs794728570(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572030
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs794728570
dbSNP (classic)rs794728570
ClinGenrs794728570
ebirs794728570
HLIrs794728570
Exacrs794728570
Gnomadrs794728570
Varsomers794728570
LitVarrs794728570
Maprs794728570
PheGenIrs794728570
Biobankrs794728570
1000 genomesrs794728570
hgdprs794728570
ensemblrs794728570
geneviewrs794728570
scholarrs794728570
googlers794728570
pharmgkbrs794728570
gwascentralrs794728570
openSNPrs794728570
23andMers794728570
SNPshotrs794728570
SNPdbers794728570
MSV3drs794728570
GWAS Ctlgrs794728570
Max Magnitude0
ClinVar
Risk rs794728570(C;C) rs794728570(G;G) rs794728570(T;T)
Alt rs794728570(C;C) rs794728570(G;G) rs794728570(T;T)
Reference Rs794728570(A;A)
Significance Pathogenic
Disease Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2593260A>G; NC_000011.9:g.2593260A>T
CLNSRC
CLNACC RCV000206825.1, RCV000477123.1,