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rs121917752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917752(A;A)
Make rs121917752(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165309414
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917752
ebirs121917752
HLIrs121917752
Exacrs121917752
Varsomers121917752
Maprs121917752
PheGenIrs121917752
hapmaprs121917752
1000 genomesrs121917752
hgdprs121917752
ensemblrs121917752
gopubmedrs121917752
geneviewrs121917752
scholarrs121917752
googlers121917752
pharmgkbrs121917752
gwascentralrs121917752
openSNPrs121917752
23andMers121917752
23andMe allrs121917752
SNP Nexus

SNPshotrs121917752
SNPdbers121917752
MSV3drs121917752
GWAS Ctlgrs121917752
Max Magnitude0
OMIM182390
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121917752(A;A)
Alt rs121917752(A;A)
Reference rs121917752(G;G)
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.166165924G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013739.25,