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rs397515403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515403(A;A)
Make rs397515403(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position135779429
GeneKCNT1
is asnp
is mentioned by
dbSNPrs397515403
ebirs397515403
HLIrs397515403
Exacrs397515403
Varsomers397515403
Maprs397515403
PheGenIrs397515403
hapmaprs397515403
1000 genomesrs397515403
hgdprs397515403
ensemblrs397515403
gopubmedrs397515403
geneviewrs397515403
scholarrs397515403
googlers397515403
pharmgkbrs397515403
gwascentralrs397515403
openSNPrs397515403
23andMers397515403
23andMe allrs397515403
SNP Nexus

SNPshotrs397515403
SNPdbers397515403
MSV3drs397515403
GWAS Ctlgrs397515403
Max Magnitude0
ClinVar
Risk rs397515403(A;A)
Alt rs397515403(A;A)
Reference rs397515403(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 14 Epilepsy
Variation info
Gene KCNT1
CLNDBN Early infantile epileptic encephalopathy 14 Epilepsy, nocturnal frontal lobe, 5
Reversed 0
HGVS NC_000009.11:g.138671275G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032794.2, RCV000233272.1,