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rs794726763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726763(A;A)
Make rs794726763(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992053
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726763
ebirs794726763
HLIrs794726763
Exacrs794726763
Varsomers794726763
Maprs794726763
PheGenIrs794726763
hapmaprs794726763
1000 genomesrs794726763
hgdprs794726763
ensemblrs794726763
gopubmedrs794726763
geneviewrs794726763
scholarrs794726763
googlers794726763
pharmgkbrs794726763
gwascentralrs794726763
openSNPrs794726763
23andMers794726763
23andMe allrs794726763
SNP Nexus

SNPshotrs794726763
SNPdbers794726763
MSV3drs794726763
GWAS Ctlgrs794726763
Max Magnitude0
ClinVar
Risk rs794726763(A;A)
Alt rs794726763(A;A)
Reference rs794726763(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166848563C>T
CLNSRC Peking University
CLNACC RCV000180878.1, RCV000188996.1,