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rs121917751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917751(A;A)
Make rs121917751(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165344666
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917751
dbSNP (classic)rs121917751
ClinGenrs121917751
ebirs121917751
HLIrs121917751
Exacrs121917751
Gnomadrs121917751
Varsomers121917751
LitVarrs121917751
Maprs121917751
PheGenIrs121917751
Biobankrs121917751
1000 genomesrs121917751
hgdprs121917751
ensemblrs121917751
geneviewrs121917751
scholarrs121917751
googlers121917751
pharmgkbrs121917751
gwascentralrs121917751
openSNPrs121917751
23andMers121917751
SNPshotrs121917751
SNPdbers121917751
MSV3drs121917751
GWAS Ctlgrs121917751
Max Magnitude0
OMIM182390
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917751(A;A)
Alt rs121917751(A;A)
Reference Rs121917751(G;G)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures not provided
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures not provided
Reversed 0
HGVS NC_000002.11:g.166201176G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013738.18, RCV000189121.1,