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rs794726761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726761(C;C)
Make rs794726761(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166038032
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726761
ebirs794726761
HLIrs794726761
Exacrs794726761
Varsomers794726761
Maprs794726761
PheGenIrs794726761
hapmaprs794726761
1000 genomesrs794726761
hgdprs794726761
ensemblrs794726761
gopubmedrs794726761
geneviewrs794726761
scholarrs794726761
googlers794726761
pharmgkbrs794726761
gwascentralrs794726761
openSNPrs794726761
23andMers794726761
23andMe allrs794726761
SNP Nexus

SNPshotrs794726761
SNPdbers794726761
MSV3drs794726761
GWAS Ctlgrs794726761
Max Magnitude0
ClinVar
Risk rs794726761(C;C)
Alt rs794726761(C;C)
Reference rs794726761(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.166894542A>G
CLNSRC Peking University
CLNACC RCV000180876.1,