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rs794726840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726840(C;C)
Make rs794726840(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166056410
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726840
ebirs794726840
HLIrs794726840
Exacrs794726840
Varsomers794726840
Maprs794726840
PheGenIrs794726840
hapmaprs794726840
1000 genomesrs794726840
hgdprs794726840
ensemblrs794726840
gopubmedrs794726840
geneviewrs794726840
scholarrs794726840
googlers794726840
pharmgkbrs794726840
gwascentralrs794726840
openSNPrs794726840
23andMers794726840
23andMe allrs794726840
SNP Nexus

SNPshotrs794726840
SNPdbers794726840
MSV3drs794726840
GWAS Ctlgrs794726840
Max Magnitude0
ClinVar
Risk rs794726840(C;C)
Alt rs794726840(C;C)
Reference rs794726840(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.166912920C>G
CLNSRC Peking University
CLNACC RCV000180968.1,