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rs397508123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs397508123(GG;TC)
Make rs397508123(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572072
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508123
dbSNP (classic)rs397508123
ClinGenrs397508123
ebirs397508123
HLIrs397508123
Exacrs397508123
Gnomadrs397508123
Varsomers397508123
LitVarrs397508123
Maprs397508123
PheGenIrs397508123
Biobankrs397508123
1000 genomesrs397508123
hgdprs397508123
ensemblrs397508123
geneviewrs397508123
scholarrs397508123
googlers397508123
pharmgkbrs397508123
gwascentralrs397508123
openSNPrs397508123
23andMers397508123
SNPshotrs397508123
SNPdbers397508123
MSV3drs397508123
GWAS Ctlgrs397508123
Max Magnitude0
ClinVar
Risk rs397508123(TC;TC)
Alt rs397508123(TC;TC)
Reference Rs397508123(GG;GG)
Significance Untested
Disease Jervell and Lange-Nielsen syndrome 1
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1
Reversed 0
HGVS NC_000011.9:g.2593302_2593303delGGinsTC
CLNSRC ClinVar
CLNACC RCV000046115.2,