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rs397508110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs397508110(-;-)
Make rs397508110(-;CT)
ReferenceGRCh38 38.1/141
Chromosome11
Position2527992
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508110
dbSNP (classic)rs397508110
ClinGenrs397508110
ebirs397508110
HLIrs397508110
Exacrs397508110
Gnomadrs397508110
Varsomers397508110
LitVarrs397508110
Maprs397508110
PheGenIrs397508110
Biobankrs397508110
1000 genomesrs397508110
hgdprs397508110
ensemblrs397508110
geneviewrs397508110
scholarrs397508110
googlers397508110
pharmgkbrs397508110
gwascentralrs397508110
openSNPrs397508110
23andMers397508110
SNPshotrs397508110
SNPdbers397508110
MSV3drs397508110
GWAS Ctlgrs397508110
Max Magnitude0
ClinVar
Risk rs397508110(-;-)
Alt rs397508110(-;-)
Reference Rs397508110(CT;CT)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2549222_2549223delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003281.3, RCV000182294.2,