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rs387906683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906683(C;T)
Make rs387906683(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165297053
GeneSCN2A
is asnp
is mentioned by
dbSNPrs387906683
ebirs387906683
HLIrs387906683
Exacrs387906683
Varsomers387906683
Maprs387906683
PheGenIrs387906683
hapmaprs387906683
1000 genomesrs387906683
hgdprs387906683
ensemblrs387906683
gopubmedrs387906683
geneviewrs387906683
scholarrs387906683
googlers387906683
pharmgkbrs387906683
gwascentralrs387906683
openSNPrs387906683
23andMers387906683
23andMe allrs387906683
SNP Nexus

SNPshotrs387906683
SNPdbers387906683
MSV3drs387906683
GWAS Ctlgrs387906683
Max Magnitude0
ClinVar
Risk rs387906683(T;T)
Alt rs387906683(T;T)
Reference rs387906683(C;C)
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.166153563C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022766.23,