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rs121918768

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918768(G;T)
Make rs121918768(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046931
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918768
ebirs121918768
HLIrs121918768
Exacrs121918768
Varsomers121918768
Maprs121918768
PheGenIrs121918768
hapmaprs121918768
1000 genomesrs121918768
hgdprs121918768
ensemblrs121918768
gopubmedrs121918768
geneviewrs121918768
scholarrs121918768
googlers121918768
pharmgkbrs121918768
gwascentralrs121918768
openSNPrs121918768
23andMers121918768
23andMe allrs121918768
SNP Nexus

SNPshotrs121918768
SNPdbers121918768
MSV3drs121918768
GWAS Ctlgrs121918768
Max Magnitude0
ClinVar
Risk rs121918768(T;T)
Alt rs121918768(T;T)
Reference rs121918768(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166903441C>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059463.2, RCV000180562.1,