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rs794728583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728583(-;T)
Make rs794728583(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2445462
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs794728583
dbSNP (classic)rs794728583
ClinGenrs794728583
ebirs794728583
HLIrs794728583
Exacrs794728583
Gnomadrs794728583
Varsomers794728583
LitVarrs794728583
Maprs794728583
PheGenIrs794728583
Biobankrs794728583
1000 genomesrs794728583
hgdprs794728583
ensemblrs794728583
geneviewrs794728583
scholarrs794728583
googlers794728583
pharmgkbrs794728583
gwascentralrs794728583
openSNPrs794728583
23andMers794728583
SNPshotrs794728583
SNPdbers794728583
MSV3drs794728583
GWAS Ctlgrs794728583
Max Magnitude0
ClinVar
Risk rs794728583(T;T)
Alt rs794728583(T;T)
Reference Rs794728583(-;-)
Significance Pathogenic
Disease not provided Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN not provided Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2466692dupT
CLNSRC
CLNACC RCV000182336.2, RCV000193564.1,