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rs121918791

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918791(C;T)
Make rs121918791(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992333
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918791
ebirs121918791
HLIrs121918791
Exacrs121918791
Varsomers121918791
Maprs121918791
PheGenIrs121918791
hapmaprs121918791
1000 genomesrs121918791
hgdprs121918791
ensemblrs121918791
gopubmedrs121918791
geneviewrs121918791
scholarrs121918791
googlers121918791
pharmgkbrs121918791
gwascentralrs121918791
openSNPrs121918791
23andMers121918791
23andMe allrs121918791
SNP Nexus

SNPshotrs121918791
SNPdbers121918791
MSV3drs121918791
GWAS Ctlgrs121918791
Max Magnitude0
ClinVar
Risk rs121918791(T;T)
Alt rs121918791(T;T)
Reference rs121918791(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848843G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059520.2,