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rs879255701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255701(A;A)
Make rs879255701(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51765750
GeneSCN8A
is asnp
is mentioned by
dbSNPrs879255701
dbSNP (classic)rs879255701
ClinGenrs879255701
ebirs879255701
HLIrs879255701
Exacrs879255701
Gnomadrs879255701
Varsomers879255701
LitVarrs879255701
Maprs879255701
PheGenIrs879255701
Biobankrs879255701
1000 genomesrs879255701
hgdprs879255701
ensemblrs879255701
geneviewrs879255701
scholarrs879255701
googlers879255701
pharmgkbrs879255701
gwascentralrs879255701
openSNPrs879255701
23andMers879255701
SNPshotrs879255701
SNPdbers879255701
MSV3drs879255701
GWAS Ctlgrs879255701
Max Magnitude0
ClinVar
Risk rs879255701(A;A)
Alt rs879255701(A;A)
Reference Rs879255701(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.52159534T>A
CLNSRC
CLNACC RCV000239761.1,