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rs879255703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255703(A;A)
Make rs879255703(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position51766005
GeneSCN8A
is asnp
is mentioned by
dbSNPrs879255703
dbSNP (classic)rs879255703
ClinGenrs879255703
ebirs879255703
HLIrs879255703
Exacrs879255703
Gnomadrs879255703
Varsomers879255703
LitVarrs879255703
Maprs879255703
PheGenIrs879255703
Biobankrs879255703
1000 genomesrs879255703
hgdprs879255703
ensemblrs879255703
geneviewrs879255703
scholarrs879255703
googlers879255703
pharmgkbrs879255703
gwascentralrs879255703
openSNPrs879255703
23andMers879255703
SNPshotrs879255703
SNPdbers879255703
MSV3drs879255703
GWAS Ctlgrs879255703
Max Magnitude0
ClinVar
Risk rs879255703(A;A)
Alt rs879255703(A;A)
Reference Rs879255703(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.52159789T>A
CLNSRC
CLNACC RCV000239747.1,