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rs863223345

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223345(A;A)
Make rs863223345(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51789350
GeneSCN8A
is asnp
is mentioned by
dbSNPrs863223345
ebirs863223345
HLIrs863223345
Exacrs863223345
Varsomers863223345
Maprs863223345
PheGenIrs863223345
hapmaprs863223345
1000 genomesrs863223345
hgdprs863223345
ensemblrs863223345
gopubmedrs863223345
geneviewrs863223345
scholarrs863223345
googlers863223345
pharmgkbrs863223345
gwascentralrs863223345
openSNPrs863223345
23andMers863223345
23andMe allrs863223345
SNP Nexus

SNPshotrs863223345
SNPdbers863223345
MSV3drs863223345
GWAS Ctlgrs863223345
Max Magnitude0
ClinVar
Risk rs863223345(A;A)
Alt rs863223345(A;A)
Reference rs863223345(G;G)
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.52183134G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000172910.4,