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rs397508120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397508120(-;-)
Make rs397508120(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570735
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508120
dbSNP (classic)rs397508120
ClinGenrs397508120
ebirs397508120
HLIrs397508120
Exacrs397508120
Gnomadrs397508120
Varsomers397508120
LitVarrs397508120
Maprs397508120
PheGenIrs397508120
Biobankrs397508120
1000 genomesrs397508120
hgdprs397508120
ensemblrs397508120
geneviewrs397508120
scholarrs397508120
googlers397508120
pharmgkbrs397508120
gwascentralrs397508120
openSNPrs397508120
23andMers397508120
SNPshotrs397508120
SNPdbers397508120
MSV3drs397508120
GWAS Ctlgrs397508120
Merged fromRs863224477
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs397508120(G;G)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2591965delG
CLNSRC ClinVar
CLNACC RCV000046095.2, RCV000182269.1,