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rs794726746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726746(G;G)
Make rs794726746(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036492
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726746
ebirs794726746
HLIrs794726746
Exacrs794726746
Varsomers794726746
Maprs794726746
PheGenIrs794726746
hapmaprs794726746
1000 genomesrs794726746
hgdprs794726746
ensemblrs794726746
gopubmedrs794726746
geneviewrs794726746
scholarrs794726746
googlers794726746
pharmgkbrs794726746
gwascentralrs794726746
openSNPrs794726746
23andMers794726746
23andMe allrs794726746
SNP Nexus

SNPshotrs794726746
SNPdbers794726746
MSV3drs794726746
GWAS Ctlgrs794726746
Max Magnitude0
ClinVar
Risk rs794726746(G;G)
Alt rs794726746(G;G)
Reference rs794726746(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not specified
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not specified
Reversed 1
HGVS NC_000002.11:g.166893002A>C
CLNSRC Peking University
CLNACC RCV000180857.1, RCV000188906.2,