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rs794726789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726789(C;T)
Make rs794726789(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002740
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726789
ebirs794726789
HLIrs794726789
Exacrs794726789
Varsomers794726789
Maprs794726789
PheGenIrs794726789
hapmaprs794726789
1000 genomesrs794726789
hgdprs794726789
ensemblrs794726789
gopubmedrs794726789
geneviewrs794726789
scholarrs794726789
googlers794726789
pharmgkbrs794726789
gwascentralrs794726789
openSNPrs794726789
23andMers794726789
23andMe allrs794726789
SNP Nexus

SNPshotrs794726789
SNPdbers794726789
MSV3drs794726789
GWAS Ctlgrs794726789
Max Magnitude0
ClinVar
Risk rs794726789(A,T;A,T)
Alt rs794726789(A,T;A,T)
Reference rs794726789(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.166859250G>A; NC_000002.11:g.166859250G>T
CLNSRC Peking University
CLNACC RCV000180905.1, RCV000188940.1,