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

rs794726769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726769(G;T)
Make rs794726769(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991805
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726769
ebirs794726769
HLIrs794726769
Exacrs794726769
Varsomers794726769
Maprs794726769
PheGenIrs794726769
hapmaprs794726769
1000 genomesrs794726769
hgdprs794726769
ensemblrs794726769
gopubmedrs794726769
geneviewrs794726769
scholarrs794726769
googlers794726769
pharmgkbrs794726769
gwascentralrs794726769
openSNPrs794726769
23andMers794726769
23andMe allrs794726769
SNP Nexus

SNPshotrs794726769
SNPdbers794726769
MSV3drs794726769
GWAS Ctlgrs794726769
Max Magnitude0
ClinVar
Risk rs794726769(T;T)
Alt rs794726769(T;T)
Reference rs794726769(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.166848315C>A
CLNSRC Peking University
CLNACC RCV000180885.1,