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rs794726782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726782(C;C)
Make rs794726782(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166047764
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726782
ebirs794726782
HLIrs794726782
Exacrs794726782
Varsomers794726782
Maprs794726782
PheGenIrs794726782
hapmaprs794726782
1000 genomesrs794726782
hgdprs794726782
ensemblrs794726782
gopubmedrs794726782
geneviewrs794726782
scholarrs794726782
googlers794726782
pharmgkbrs794726782
gwascentralrs794726782
openSNPrs794726782
23andMers794726782
23andMe allrs794726782
SNP Nexus

SNPshotrs794726782
SNPdbers794726782
MSV3drs794726782
GWAS Ctlgrs794726782
Max Magnitude0
ClinVar
Risk rs794726782(C;C)
Alt rs794726782(C;C)
Reference rs794726782(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.166904274A>G
CLNSRC Peking University
CLNACC RCV000180898.1,