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rs794726780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726780(G;T)
Make rs794726780(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991871
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726780
ClinGenrs794726780
ebirs794726780
HLIrs794726780
Exacrs794726780
Varsomers794726780
Maprs794726780
PheGenIrs794726780
hapmaprs794726780
1000 genomesrs794726780
hgdprs794726780
ensemblrs794726780
gopubmedrs794726780
geneviewrs794726780
scholarrs794726780
googlers794726780
pharmgkbrs794726780
gwascentralrs794726780
openSNPrs794726780
23andMers794726780
23andMe allrs794726780
SNP Nexus

SNPshotrs794726780
SNPdbers794726780
MSV3drs794726780
GWAS Ctlgrs794726780
Max Magnitude0
ClinVar
Risk rs794726780(T;T)
Alt rs794726780(T;T)
Reference Rs794726780(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848381C>A
CLNSRC Peking University
CLNACC RCV000180896.1,