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rs794726719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726719(C;C)
Make rs794726719(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166052871
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726719
ebirs794726719
HLIrs794726719
Exacrs794726719
Varsomers794726719
Maprs794726719
PheGenIrs794726719
hapmaprs794726719
1000 genomesrs794726719
hgdprs794726719
ensemblrs794726719
gopubmedrs794726719
geneviewrs794726719
scholarrs794726719
googlers794726719
pharmgkbrs794726719
gwascentralrs794726719
openSNPrs794726719
23andMers794726719
23andMe allrs794726719
SNP Nexus

SNPshotrs794726719
SNPdbers794726719
MSV3drs794726719
GWAS Ctlgrs794726719
Max Magnitude0
ClinVar
Risk rs794726719(C;C)
Alt rs794726719(C;C)
Reference rs794726719(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.166909381C>G
CLNSRC Peking University
CLNACC RCV000180824.1,