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rs794726826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726826(C;T)
Make rs794726826(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046888
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726826
ebirs794726826
HLIrs794726826
Exacrs794726826
Varsomers794726826
Maprs794726826
PheGenIrs794726826
hapmaprs794726826
1000 genomesrs794726826
hgdprs794726826
ensemblrs794726826
gopubmedrs794726826
geneviewrs794726826
scholarrs794726826
googlers794726826
pharmgkbrs794726826
gwascentralrs794726826
openSNPrs794726826
23andMers794726826
23andMe allrs794726826
SNP Nexus

SNPshotrs794726826
SNPdbers794726826
MSV3drs794726826
GWAS Ctlgrs794726826
Max Magnitude0
ClinVar
Risk rs794726826(T;T)
Alt rs794726826(T;T)
Reference rs794726826(C;C)
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.166903398G>A
CLNSRC Peking University
CLNACC RCV000180952.1,