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rs879255700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255700(C;C)
Make rs879255700(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51762669
GeneSCN8A
is asnp
is mentioned by
dbSNPrs879255700
dbSNP (classic)rs879255700
ClinGenrs879255700
ebirs879255700
HLIrs879255700
Exacrs879255700
Gnomadrs879255700
Varsomers879255700
LitVarrs879255700
Maprs879255700
PheGenIrs879255700
Biobankrs879255700
1000 genomesrs879255700
hgdprs879255700
ensemblrs879255700
geneviewrs879255700
scholarrs879255700
googlers879255700
pharmgkbrs879255700
gwascentralrs879255700
openSNPrs879255700
23andMers879255700
SNPshotrs879255700
SNPdbers879255700
MSV3drs879255700
GWAS Ctlgrs879255700
Max Magnitude0
ClinVar
Risk rs879255700(C;C)
Alt rs879255700(C;C)
Reference Rs879255700(T;T)
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.52156453T>C
CLNSRC
CLNACC RCV000239728.1,