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rs794726783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726783(-;-)
Make rs794726783(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991941
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726783
ebirs794726783
HLIrs794726783
Exacrs794726783
Varsomers794726783
Maprs794726783
PheGenIrs794726783
hapmaprs794726783
1000 genomesrs794726783
hgdprs794726783
ensemblrs794726783
gopubmedrs794726783
geneviewrs794726783
scholarrs794726783
googlers794726783
pharmgkbrs794726783
gwascentralrs794726783
openSNPrs794726783
23andMers794726783
23andMe allrs794726783
SNP Nexus

SNPshotrs794726783
SNPdbers794726783
MSV3drs794726783
GWAS Ctlgrs794726783
Max Magnitude0
ClinVar
Risk rs794726783(;)
Alt rs794726783(;)
Reference rs794726783(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.166848451delC
CLNSRC Peking University
CLNACC RCV000180899.1,