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rs794726807

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726807(G;T)
Make rs794726807(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046802
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726807
ebirs794726807
HLIrs794726807
Exacrs794726807
Varsomers794726807
Maprs794726807
PheGenIrs794726807
hapmaprs794726807
1000 genomesrs794726807
hgdprs794726807
ensemblrs794726807
gopubmedrs794726807
geneviewrs794726807
scholarrs794726807
googlers794726807
pharmgkbrs794726807
gwascentralrs794726807
openSNPrs794726807
23andMers794726807
23andMe allrs794726807
SNP Nexus

SNPshotrs794726807
SNPdbers794726807
MSV3drs794726807
GWAS Ctlgrs794726807
Max Magnitude0
ClinVar
Risk rs794726807(T;T)
Alt rs794726807(T;T)
Reference rs794726807(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.166903312C>A
CLNSRC Peking University
CLNACC RCV000180928.1,