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rs121917753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917753(A;A)
Make rs121917753(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165373331
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917753
dbSNP (classic)rs121917753
ClinGenrs121917753
ebirs121917753
HLIrs121917753
Exacrs121917753
Gnomadrs121917753
Varsomers121917753
LitVarrs121917753
Maprs121917753
PheGenIrs121917753
Biobankrs121917753
1000 genomesrs121917753
hgdprs121917753
ensemblrs121917753
geneviewrs121917753
scholarrs121917753
googlers121917753
pharmgkbrs121917753
gwascentralrs121917753
openSNPrs121917753
23andMers121917753
SNPshotrs121917753
SNPdbers121917753
MSV3drs121917753
GWAS Ctlgrs121917753
Max Magnitude0
OMIM182390
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121917753(A;A) rs121917753(T;T)
Alt rs121917753(A;A) rs121917753(T;T)
Reference Rs121917753(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.166229841G>A; NC_000002.11:g.166229841G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013740.23, RCV000189142.3, RCV000444205.1,