Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726739(C;T)
Make rs794726739(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991601
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726739
ebirs794726739
HLIrs794726739
Exacrs794726739
Varsomers794726739
Maprs794726739
PheGenIrs794726739
hapmaprs794726739
1000 genomesrs794726739
hgdprs794726739
ensemblrs794726739
gopubmedrs794726739
geneviewrs794726739
scholarrs794726739
googlers794726739
pharmgkbrs794726739
gwascentralrs794726739
openSNPrs794726739
23andMers794726739
23andMe allrs794726739
SNP Nexus

SNPshotrs794726739
SNPdbers794726739
MSV3drs794726739
GWAS Ctlgrs794726739
Max Magnitude0
ClinVar
Risk rs794726739(T;T)
Alt rs794726739(T;T)
Reference rs794726739(C;C)
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.166848111G>A
CLNSRC Peking University
CLNACC RCV000180848.1, RCV000189004.1,