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rs876657399

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657399(C;G)
Make rs876657399(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position51768915
GeneSCN8A
is asnp
is mentioned by
dbSNPrs876657399
ebirs876657399
HLIrs876657399
Exacrs876657399
Varsomers876657399
Maprs876657399
PheGenIrs876657399
hapmaprs876657399
1000 genomesrs876657399
hgdprs876657399
ensemblrs876657399
gopubmedrs876657399
geneviewrs876657399
scholarrs876657399
googlers876657399
pharmgkbrs876657399
gwascentralrs876657399
openSNPrs876657399
23andMers876657399
23andMe allrs876657399
SNP Nexus

SNPshotrs876657399
SNPdbers876657399
MSV3drs876657399
GWAS Ctlgrs876657399
Max Magnitude0
ClinVar
Risk rs876657399(G;G)
Alt rs876657399(G;G)
Reference rs876657399(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.52162699C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000172909.3,