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rs794726816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726816(A;G)
Make rs794726816(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166009843
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726816
ebirs794726816
HLIrs794726816
Exacrs794726816
Varsomers794726816
Maprs794726816
PheGenIrs794726816
hapmaprs794726816
1000 genomesrs794726816
hgdprs794726816
ensemblrs794726816
gopubmedrs794726816
geneviewrs794726816
scholarrs794726816
googlers794726816
pharmgkbrs794726816
gwascentralrs794726816
openSNPrs794726816
23andMers794726816
23andMe allrs794726816
SNP Nexus

SNPshotrs794726816
SNPdbers794726816
MSV3drs794726816
GWAS Ctlgrs794726816
Max Magnitude0
ClinVar
Risk rs794726816(G;G)
Alt rs794726816(G;G)
Reference rs794726816(A;A)
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.166866353T>C
CLNSRC Peking University
CLNACC RCV000180941.1,