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rs121918739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918739(A;C)
Make rs121918739(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166012210
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918739
ebirs121918739
HLIrs121918739
Exacrs121918739
Varsomers121918739
Maprs121918739
PheGenIrs121918739
hapmaprs121918739
1000 genomesrs121918739
hgdprs121918739
ensemblrs121918739
gopubmedrs121918739
geneviewrs121918739
scholarrs121918739
googlers121918739
pharmgkbrs121918739
gwascentralrs121918739
openSNPrs121918739
23andMers121918739
23andMe allrs121918739
SNP Nexus

SNPshotrs121918739
SNPdbers121918739
MSV3drs121918739
GWAS Ctlgrs121918739
Max Magnitude0
ClinVar
Risk rs121918739(C;C)
Alt rs121918739(C;C)
Reference Rs121918739(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166868720T>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059498.2, RCV000188929.1,