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rs397514738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514738(C;G)
Make rs397514738(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position51786590
GeneSCN8A
is asnp
is mentioned by
dbSNPrs397514738
ebirs397514738
HLIrs397514738
Exacrs397514738
Varsomers397514738
Maprs397514738
PheGenIrs397514738
hapmaprs397514738
1000 genomesrs397514738
hgdprs397514738
ensemblrs397514738
gopubmedrs397514738
geneviewrs397514738
scholarrs397514738
googlers397514738
pharmgkbrs397514738
gwascentralrs397514738
openSNPrs397514738
23andMers397514738
23andMe allrs397514738
SNP Nexus

SNPshotrs397514738
SNPdbers397514738
MSV3drs397514738
GWAS Ctlgrs397514738
Max Magnitude0
ClinVar
Risk rs397514738(G;G)
Alt rs397514738(G;G)
Reference rs397514738(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52180374C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054506.3,