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rs794726822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726822(A;A)
Make rs794726822(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002712
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726822
ebirs794726822
HLIrs794726822
Exacrs794726822
Varsomers794726822
Maprs794726822
PheGenIrs794726822
hapmaprs794726822
1000 genomesrs794726822
hgdprs794726822
ensemblrs794726822
gopubmedrs794726822
geneviewrs794726822
scholarrs794726822
googlers794726822
pharmgkbrs794726822
gwascentralrs794726822
openSNPrs794726822
23andMers794726822
23andMe allrs794726822
SNP Nexus

SNPshotrs794726822
SNPdbers794726822
MSV3drs794726822
GWAS Ctlgrs794726822
Max Magnitude0
ClinVar
Risk rs794726822(A;A)
Alt rs794726822(A;A)
Reference rs794726822(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.166859222C>T
CLNSRC Peking University
CLNACC RCV000180947.1,