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rs794726844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726844(A;G)
Make rs794726844(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047751
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726844
ebirs794726844
HLIrs794726844
Exacrs794726844
Varsomers794726844
Maprs794726844
PheGenIrs794726844
hapmaprs794726844
1000 genomesrs794726844
hgdprs794726844
ensemblrs794726844
gopubmedrs794726844
geneviewrs794726844
scholarrs794726844
googlers794726844
pharmgkbrs794726844
gwascentralrs794726844
openSNPrs794726844
23andMers794726844
23andMe allrs794726844
SNP Nexus

SNPshotrs794726844
SNPdbers794726844
MSV3drs794726844
GWAS Ctlgrs794726844
Max Magnitude0
ClinVar
Risk rs794726844(G;G)
Alt rs794726844(G;G)
Reference rs794726844(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.166904261T>C
CLNSRC Peking University
CLNACC RCV000180974.1,