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rs794726764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726764(C;G)
Make rs794726764(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166056501
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726764
ebirs794726764
HLIrs794726764
Exacrs794726764
Varsomers794726764
Maprs794726764
PheGenIrs794726764
hapmaprs794726764
1000 genomesrs794726764
hgdprs794726764
ensemblrs794726764
gopubmedrs794726764
geneviewrs794726764
scholarrs794726764
googlers794726764
pharmgkbrs794726764
gwascentralrs794726764
openSNPrs794726764
23andMers794726764
23andMe allrs794726764
SNP Nexus

SNPshotrs794726764
SNPdbers794726764
MSV3drs794726764
GWAS Ctlgrs794726764
Max Magnitude0
ClinVar
Risk rs794726764(G;G)
Alt rs794726764(G;G)
Reference rs794726764(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166913011G>C
CLNSRC Peking University
CLNACC RCV000180880.1,