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rs879253767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879253767(-;-)
Make rs879253767(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position165313739
GeneSCN2A
is asnp
is mentioned by
dbSNPrs879253767
dbSNP (classic)rs879253767
ClinGenrs879253767
ebirs879253767
HLIrs879253767
Exacrs879253767
Gnomadrs879253767
Varsomers879253767
LitVarrs879253767
Maprs879253767
PheGenIrs879253767
Biobankrs879253767
1000 genomesrs879253767
hgdprs879253767
ensemblrs879253767
geneviewrs879253767
scholarrs879253767
googlers879253767
pharmgkbrs879253767
gwascentralrs879253767
openSNPrs879253767
23andMers879253767
SNPshotrs879253767
SNPdbers879253767
MSV3drs879253767
GWAS Ctlgrs879253767
Max Magnitude0
ClinVar
Risk rs879253767(-;-)
Alt rs879253767(-;-)
Reference Rs879253767(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 11
Variation info
Gene SCN2A
CLNDBN Early infantile epileptic encephalopathy 11
Reversed 0
HGVS NC_000002.11:g.166170249delT
CLNSRC
CLNACC RCV000234961.1,