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rs121917748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917748(C;T)
Make rs121917748(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165308751
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917748
ebirs121917748
HLIrs121917748
Exacrs121917748
Varsomers121917748
Maprs121917748
PheGenIrs121917748
hapmaprs121917748
1000 genomesrs121917748
hgdprs121917748
ensemblrs121917748
gopubmedrs121917748
geneviewrs121917748
scholarrs121917748
googlers121917748
pharmgkbrs121917748
gwascentralrs121917748
openSNPrs121917748
23andMers121917748
23andMe allrs121917748
SNP Nexus

SNPshotrs121917748
SNPdbers121917748
MSV3drs121917748
GWAS Ctlgrs121917748
Max Magnitude0
OMIM182390
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917748(T;T)
Alt rs121917748(T;T)
Reference rs121917748(C;C)
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.166165261C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013735.25,