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rs794726697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726697(C;T)
Make rs794726697(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166038129
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726697
ebirs794726697
HLIrs794726697
Exacrs794726697
Varsomers794726697
Maprs794726697
PheGenIrs794726697
hapmaprs794726697
1000 genomesrs794726697
hgdprs794726697
ensemblrs794726697
gopubmedrs794726697
geneviewrs794726697
scholarrs794726697
googlers794726697
pharmgkbrs794726697
gwascentralrs794726697
openSNPrs794726697
23andMers794726697
23andMe allrs794726697
SNP Nexus

SNPshotrs794726697
SNPdbers794726697
MSV3drs794726697
GWAS Ctlgrs794726697
Max Magnitude0
ClinVar
Risk rs794726697(T;T)
Alt rs794726697(T;T)
Reference rs794726697(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.166894639G>A
CLNSRC Peking University
CLNACC RCV000180798.1,