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rs397508067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397508067(-;-)
Make rs397508067(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583521
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508067
dbSNP (classic)rs397508067
ClinGenrs397508067
ebirs397508067
HLIrs397508067
Exacrs397508067
Gnomadrs397508067
Varsomers397508067
LitVarrs397508067
Maprs397508067
PheGenIrs397508067
Biobankrs397508067
1000 genomesrs397508067
hgdprs397508067
ensemblrs397508067
geneviewrs397508067
scholarrs397508067
googlers397508067
pharmgkbrs397508067
gwascentralrs397508067
openSNPrs397508067
23andMers397508067
SNPshotrs397508067
SNPdbers397508067
MSV3drs397508067
GWAS Ctlgrs397508067
Max Magnitude0
ClinVar
Risk rs397508067(-;-)
Alt rs397508067(-;-)
Reference Rs397508067(C;C)
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.2604751delC
CLNSRC ClinVar
CLNACC RCV000045927.2, RCV000493679.1,