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rs387906687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906687(A;G)
Make rs387906687(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165310379
GeneSCN2A
is asnp
is mentioned by
dbSNPrs387906687
dbSNP (classic)rs387906687
ClinGenrs387906687
ebirs387906687
HLIrs387906687
Exacrs387906687
Gnomadrs387906687
Varsomers387906687
LitVarrs387906687
Maprs387906687
PheGenIrs387906687
Biobankrs387906687
1000 genomesrs387906687
hgdprs387906687
ensemblrs387906687
geneviewrs387906687
scholarrs387906687
googlers387906687
pharmgkbrs387906687
gwascentralrs387906687
openSNPrs387906687
23andMers387906687
SNPshotrs387906687
SNPdbers387906687
MSV3drs387906687
GWAS Ctlgrs387906687
Max Magnitude0
ClinVar
Risk rs387906687(G;G)
Alt rs387906687(G;G)
Reference Rs387906687(A;A)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures
Reversed 0
HGVS NC_000002.11:g.166166889A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022770.18,