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rs794726811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726811(G;T)
Make rs794726811(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037942
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726811
ebirs794726811
HLIrs794726811
Exacrs794726811
Varsomers794726811
Maprs794726811
PheGenIrs794726811
hapmaprs794726811
1000 genomesrs794726811
hgdprs794726811
ensemblrs794726811
gopubmedrs794726811
geneviewrs794726811
scholarrs794726811
googlers794726811
pharmgkbrs794726811
gwascentralrs794726811
openSNPrs794726811
23andMers794726811
23andMe allrs794726811
SNP Nexus

SNPshotrs794726811
SNPdbers794726811
MSV3drs794726811
GWAS Ctlgrs794726811
Max Magnitude0
ClinVar
Risk rs794726811(T;T)
Alt rs794726811(T;T)
Reference rs794726811(G;G)
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.166894452C>A
CLNSRC Peking University
CLNACC RCV000180933.1,