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rs878854263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854263(G;T)
Make rs878854263(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position166002474
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs878854263
dbSNP (classic)rs878854263
ClinGenrs878854263
ebirs878854263
HLIrs878854263
Exacrs878854263
Gnomadrs878854263
Varsomers878854263
LitVarrs878854263
Maprs878854263
PheGenIrs878854263
Biobankrs878854263
1000 genomesrs878854263
hgdprs878854263
ensemblrs878854263
geneviewrs878854263
scholarrs878854263
googlers878854263
pharmgkbrs878854263
gwascentralrs878854263
openSNPrs878854263
23andMers878854263
SNPshotrs878854263
SNPdbers878854263
MSV3drs878854263
GWAS Ctlgrs878854263
Max Magnitude0
ClinVar
Risk rs878854263(T;T)
Alt rs878854263(T;T)
Reference Rs878854263(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166858984C>A
CLNSRC
CLNACC RCV000231750.1,