Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726743(G;T)
Make rs794726743(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166041385
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726743
ebirs794726743
HLIrs794726743
Exacrs794726743
Varsomers794726743
Maprs794726743
PheGenIrs794726743
hapmaprs794726743
1000 genomesrs794726743
hgdprs794726743
ensemblrs794726743
gopubmedrs794726743
geneviewrs794726743
scholarrs794726743
googlers794726743
pharmgkbrs794726743
gwascentralrs794726743
openSNPrs794726743
23andMers794726743
23andMe allrs794726743
SNP Nexus

SNPshotrs794726743
SNPdbers794726743
MSV3drs794726743
GWAS Ctlgrs794726743
Max Magnitude0
ClinVar
Risk rs794726743(T;T)
Alt rs794726743(T;T)
Reference rs794726743(G;G)
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.166897895C>A
CLNSRC Peking University
CLNACC RCV000180853.1,