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rs794726831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726831(A;T)
Make rs794726831(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166058573
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726831
ebirs794726831
HLIrs794726831
Exacrs794726831
Varsomers794726831
Maprs794726831
PheGenIrs794726831
hapmaprs794726831
1000 genomesrs794726831
hgdprs794726831
ensemblrs794726831
gopubmedrs794726831
geneviewrs794726831
scholarrs794726831
googlers794726831
pharmgkbrs794726831
gwascentralrs794726831
openSNPrs794726831
23andMers794726831
23andMe allrs794726831
SNP Nexus

SNPshotrs794726831
SNPdbers794726831
MSV3drs794726831
GWAS Ctlgrs794726831
Max Magnitude0
ClinVar
Risk rs794726831(T;T)
Alt rs794726831(T;T)
Reference rs794726831(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.166915083T>A
CLNSRC Peking University
CLNACC RCV000180958.1,