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rs879255702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255702(A;A)
Make rs879255702(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51765794
GeneSCN8A
is asnp
is mentioned by
dbSNPrs879255702
dbSNP (classic)rs879255702
ClinGenrs879255702
ebirs879255702
HLIrs879255702
Exacrs879255702
Gnomadrs879255702
Varsomers879255702
LitVarrs879255702
Maprs879255702
PheGenIrs879255702
Biobankrs879255702
1000 genomesrs879255702
hgdprs879255702
ensemblrs879255702
geneviewrs879255702
scholarrs879255702
googlers879255702
pharmgkbrs879255702
gwascentralrs879255702
openSNPrs879255702
23andMers879255702
SNPshotrs879255702
SNPdbers879255702
MSV3drs879255702
GWAS Ctlgrs879255702
Max Magnitude0
ClinVar
Risk rs879255702(A;A)
Alt rs879255702(A;A)
Reference Rs879255702(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.52159578G>A
CLNSRC
CLNACC RCV000239733.1,