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rs794726809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726809(C;T)
Make rs794726809(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165998102
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726809
ClinGenrs794726809
ebirs794726809
HLIrs794726809
Exacrs794726809
Varsomers794726809
Maprs794726809
PheGenIrs794726809
hapmaprs794726809
1000 genomesrs794726809
hgdprs794726809
ensemblrs794726809
gopubmedrs794726809
geneviewrs794726809
scholarrs794726809
googlers794726809
pharmgkbrs794726809
gwascentralrs794726809
openSNPrs794726809
23andMers794726809
23andMe allrs794726809
SNP Nexus

SNPshotrs794726809
SNPdbers794726809
MSV3drs794726809
GWAS Ctlgrs794726809
Max Magnitude0
ClinVar
Risk rs794726809(T;T)
Alt rs794726809(T;T)
Reference Rs794726809(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166854612G>A
CLNSRC Peking University
CLNACC RCV000180931.1,