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rs794726803

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726803(A;G)
Make rs794726803(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166058569
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726803
ebirs794726803
HLIrs794726803
Exacrs794726803
Varsomers794726803
Maprs794726803
PheGenIrs794726803
hapmaprs794726803
1000 genomesrs794726803
hgdprs794726803
ensemblrs794726803
gopubmedrs794726803
geneviewrs794726803
scholarrs794726803
googlers794726803
pharmgkbrs794726803
gwascentralrs794726803
openSNPrs794726803
23andMers794726803
23andMe allrs794726803
SNP Nexus

SNPshotrs794726803
SNPdbers794726803
MSV3drs794726803
GWAS Ctlgrs794726803
Max Magnitude0
ClinVar
Risk rs794726803(G;G)
Alt rs794726803(G;G)
Reference rs794726803(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.166915079T>C
CLNSRC Peking University
CLNACC RCV000180921.1,