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rs387906685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906685(A;G)
Make rs387906685(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165380702
GeneSCN2A
is asnp
is mentioned by
dbSNPrs387906685
dbSNP (classic)rs387906685
ClinGenrs387906685
ebirs387906685
HLIrs387906685
Exacrs387906685
Gnomadrs387906685
Varsomers387906685
LitVarrs387906685
Maprs387906685
PheGenIrs387906685
Biobankrs387906685
1000 genomesrs387906685
hgdprs387906685
ensemblrs387906685
geneviewrs387906685
scholarrs387906685
googlers387906685
pharmgkbrs387906685
gwascentralrs387906685
openSNPrs387906685
23andMers387906685
SNPshotrs387906685
SNPdbers387906685
MSV3drs387906685
GWAS Ctlgrs387906685
Max Magnitude0
ClinVar
Risk rs387906685(G;G)
Alt rs387906685(G;G)
Reference Rs387906685(A;A)
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.166237212A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022768.24,