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rs794726810

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726810(-;-)
Make rs794726810(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046846
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726810
ebirs794726810
HLIrs794726810
Exacrs794726810
Varsomers794726810
Maprs794726810
PheGenIrs794726810
hapmaprs794726810
1000 genomesrs794726810
hgdprs794726810
ensemblrs794726810
gopubmedrs794726810
geneviewrs794726810
scholarrs794726810
googlers794726810
pharmgkbrs794726810
gwascentralrs794726810
openSNPrs794726810
23andMers794726810
23andMe allrs794726810
SNP Nexus

SNPshotrs794726810
SNPdbers794726810
MSV3drs794726810
GWAS Ctlgrs794726810
Max Magnitude0
ClinVar
Risk rs794726810(;)
Alt rs794726810(;)
Reference rs794726810(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.166903356delA
CLNSRC Peking University
CLNACC RCV000180932.1,