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rs794726843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726843(G;T)
Make rs794726843(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048890
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726843
ebirs794726843
HLIrs794726843
Exacrs794726843
Varsomers794726843
Maprs794726843
PheGenIrs794726843
hapmaprs794726843
1000 genomesrs794726843
hgdprs794726843
ensemblrs794726843
gopubmedrs794726843
geneviewrs794726843
scholarrs794726843
googlers794726843
pharmgkbrs794726843
gwascentralrs794726843
openSNPrs794726843
23andMers794726843
23andMe allrs794726843
SNP Nexus

SNPshotrs794726843
SNPdbers794726843
MSV3drs794726843
GWAS Ctlgrs794726843
Max Magnitude0
ClinVar
Risk rs794726843(T;T)
Alt rs794726843(T;T)
Reference rs794726843(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.166905400C>A
CLNSRC Peking University
CLNACC RCV000180973.1,