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rs794726833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726833(A;C)
Make rs794726833(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166054635
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726833
ebirs794726833
HLIrs794726833
Exacrs794726833
Varsomers794726833
Maprs794726833
PheGenIrs794726833
hapmaprs794726833
1000 genomesrs794726833
hgdprs794726833
ensemblrs794726833
gopubmedrs794726833
geneviewrs794726833
scholarrs794726833
googlers794726833
pharmgkbrs794726833
gwascentralrs794726833
openSNPrs794726833
23andMers794726833
23andMe allrs794726833
SNP Nexus

SNPshotrs794726833
SNPdbers794726833
MSV3drs794726833
GWAS Ctlgrs794726833
Max Magnitude0
ClinVar
Risk rs794726833(C;C)
Alt rs794726833(C;C)
Reference rs794726833(A;A)
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.166911145T>G
CLNSRC Peking University
CLNACC RCV000180960.1,