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rs794726748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726748(G;G)
Make rs794726748(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992193
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726748
ebirs794726748
HLIrs794726748
Exacrs794726748
Varsomers794726748
Maprs794726748
PheGenIrs794726748
hapmaprs794726748
1000 genomesrs794726748
hgdprs794726748
ensemblrs794726748
gopubmedrs794726748
geneviewrs794726748
scholarrs794726748
googlers794726748
pharmgkbrs794726748
gwascentralrs794726748
openSNPrs794726748
23andMers794726748
23andMe allrs794726748
SNP Nexus

SNPshotrs794726748
SNPdbers794726748
MSV3drs794726748
GWAS Ctlgrs794726748
Max Magnitude0
ClinVar
Risk rs794726748(G;G)
Alt rs794726748(G;G)
Reference rs794726748(T;T)
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.166848703A>C
CLNSRC Peking University
CLNACC RCV000180859.1,