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rs121917754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917754(A;A)
Make rs121917754(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165354279
GeneSCN2A
is asnp
is mentioned by
dbSNPrs121917754
ebirs121917754
HLIrs121917754
Exacrs121917754
Varsomers121917754
Maprs121917754
PheGenIrs121917754
hapmaprs121917754
1000 genomesrs121917754
hgdprs121917754
ensemblrs121917754
gopubmedrs121917754
geneviewrs121917754
scholarrs121917754
googlers121917754
pharmgkbrs121917754
gwascentralrs121917754
openSNPrs121917754
23andMers121917754
23andMe allrs121917754
SNP Nexus

SNPshotrs121917754
SNPdbers121917754
MSV3drs121917754
GWAS Ctlgrs121917754
Max Magnitude0
OMIM182390
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121917754(A;A)
Alt rs121917754(A;A)
Reference rs121917754(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.166210789C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013741.24,