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rs794726794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726794(A;G)
Make rs794726794(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039475
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726794
ebirs794726794
HLIrs794726794
Exacrs794726794
Varsomers794726794
Maprs794726794
PheGenIrs794726794
hapmaprs794726794
1000 genomesrs794726794
hgdprs794726794
ensemblrs794726794
gopubmedrs794726794
geneviewrs794726794
scholarrs794726794
googlers794726794
pharmgkbrs794726794
gwascentralrs794726794
openSNPrs794726794
23andMers794726794
23andMe allrs794726794
SNP Nexus

SNPshotrs794726794
SNPdbers794726794
MSV3drs794726794
GWAS Ctlgrs794726794
Max Magnitude0
ClinVar
Risk rs794726794(G;G)
Alt rs794726794(G;G)
Reference rs794726794(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.166895985T>C
CLNSRC Peking University
CLNACC RCV000180911.1,