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rs794726838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726838(C;T)
Make rs794726838(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166043742
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726838
ebirs794726838
HLIrs794726838
Exacrs794726838
Varsomers794726838
Maprs794726838
PheGenIrs794726838
hapmaprs794726838
1000 genomesrs794726838
hgdprs794726838
ensemblrs794726838
gopubmedrs794726838
geneviewrs794726838
scholarrs794726838
googlers794726838
pharmgkbrs794726838
gwascentralrs794726838
openSNPrs794726838
23andMers794726838
23andMe allrs794726838
SNP Nexus

SNPshotrs794726838
SNPdbers794726838
MSV3drs794726838
GWAS Ctlgrs794726838
Max Magnitude0
ClinVar
Risk rs794726838(T;T)
Alt rs794726838(T;T)
Reference rs794726838(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.166900252G>A
CLNSRC Peking University
CLNACC RCV000180966.1,