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rs794726793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726793(C;C)
Make rs794726793(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166058630
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726793
ebirs794726793
HLIrs794726793
Exacrs794726793
Varsomers794726793
Maprs794726793
PheGenIrs794726793
hapmaprs794726793
1000 genomesrs794726793
hgdprs794726793
ensemblrs794726793
gopubmedrs794726793
geneviewrs794726793
scholarrs794726793
googlers794726793
pharmgkbrs794726793
gwascentralrs794726793
openSNPrs794726793
23andMers794726793
23andMe allrs794726793
SNP Nexus

SNPshotrs794726793
SNPdbers794726793
MSV3drs794726793
GWAS Ctlgrs794726793
Max Magnitude0
ClinVar
Risk rs794726793(C;C)
Alt rs794726793(C;C)
Reference rs794726793(T;T)
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.166915140A>G
CLNSRC Peking University
CLNACC RCV000180910.1,