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rs397515404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515404(A;A)
Make rs397515404(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position135768848
GeneKCNT1
is asnp
is mentioned by
dbSNPrs397515404
dbSNP (classic)rs397515404
ClinGenrs397515404
ebirs397515404
HLIrs397515404
Exacrs397515404
Gnomadrs397515404
Varsomers397515404
LitVarrs397515404
Maprs397515404
PheGenIrs397515404
Biobankrs397515404
1000 genomesrs397515404
hgdprs397515404
ensemblrs397515404
geneviewrs397515404
scholarrs397515404
googlers397515404
pharmgkbrs397515404
gwascentralrs397515404
openSNPrs397515404
23andMers397515404
SNPshotrs397515404
SNPdbers397515404
MSV3drs397515404
GWAS Ctlgrs397515404
Max Magnitude0
ClinVar
Risk rs397515404(A;A)
Alt rs397515404(A;A)
Reference Rs397515404(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 14 not provided
Variation info
Gene KCNT1
CLNDBN Early infantile epileptic encephalopathy 14 not provided
Reversed 0
HGVS NC_000009.11:g.138660694G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032795.3, RCV000414268.1,