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rs879255698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255698(C;C)
Make rs879255698(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51705503
GeneSCN8A
is asnp
is mentioned by
dbSNPrs879255698
dbSNP (classic)rs879255698
ClinGenrs879255698
ebirs879255698
HLIrs879255698
Exacrs879255698
Gnomadrs879255698
Varsomers879255698
LitVarrs879255698
Maprs879255698
PheGenIrs879255698
Biobankrs879255698
1000 genomesrs879255698
hgdprs879255698
ensemblrs879255698
geneviewrs879255698
scholarrs879255698
googlers879255698
pharmgkbrs879255698
gwascentralrs879255698
openSNPrs879255698
23andMers879255698
SNPshotrs879255698
SNPdbers879255698
MSV3drs879255698
GWAS Ctlgrs879255698
Max Magnitude0
ClinVar
Risk rs879255698(C;C)
Alt rs879255698(C;C)
Reference Rs879255698(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.52099287G>C
CLNSRC
CLNACC RCV000239755.1,