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rs794726815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726815(A;A)
Make rs794726815(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166038044
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726815
ebirs794726815
HLIrs794726815
Exacrs794726815
Varsomers794726815
Maprs794726815
PheGenIrs794726815
hapmaprs794726815
1000 genomesrs794726815
hgdprs794726815
ensemblrs794726815
gopubmedrs794726815
geneviewrs794726815
scholarrs794726815
googlers794726815
pharmgkbrs794726815
gwascentralrs794726815
openSNPrs794726815
23andMers794726815
23andMe allrs794726815
SNP Nexus

SNPshotrs794726815
SNPdbers794726815
MSV3drs794726815
GWAS Ctlgrs794726815
Max Magnitude0
ClinVar
Risk rs794726815(A;A)
Alt rs794726815(A;A)
Reference rs794726815(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.166894554A>T
CLNSRC Peking University
CLNACC RCV000180940.1,