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rs794726817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726817(G;T)
Make rs794726817(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012231
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726817
ebirs794726817
HLIrs794726817
Exacrs794726817
Varsomers794726817
Maprs794726817
PheGenIrs794726817
hapmaprs794726817
1000 genomesrs794726817
hgdprs794726817
ensemblrs794726817
gopubmedrs794726817
geneviewrs794726817
scholarrs794726817
googlers794726817
pharmgkbrs794726817
gwascentralrs794726817
openSNPrs794726817
23andMers794726817
23andMe allrs794726817
SNP Nexus

SNPshotrs794726817
SNPdbers794726817
MSV3drs794726817
GWAS Ctlgrs794726817
Max Magnitude0
ClinVar
Risk rs794726817(T;T)
Alt rs794726817(T;T)
Reference rs794726817(G;G)
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.166868741C>A
CLNSRC Peking University
CLNACC RCV000180942.1,