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rs121918733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918733(C;C)
Make rs121918733(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166058684
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918733
ebirs121918733
HLIrs121918733
Exacrs121918733
Varsomers121918733
Maprs121918733
PheGenIrs121918733
hapmaprs121918733
1000 genomesrs121918733
hgdprs121918733
ensemblrs121918733
gopubmedrs121918733
geneviewrs121918733
scholarrs121918733
googlers121918733
pharmgkbrs121918733
gwascentralrs121918733
openSNPrs121918733
23andMers121918733
23andMe allrs121918733
SNP Nexus

SNPshotrs121918733
SNPdbers121918733
MSV3drs121918733
GWAS Ctlgrs121918733
Max Magnitude0
ClinVar
Risk rs121918733(C;C)
Alt rs121918733(C;C)
Reference rs121918733(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166915194A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059473.2,