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rs794726722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726722(A;G)
Make rs794726722(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992011
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726722
ebirs794726722
HLIrs794726722
Exacrs794726722
Varsomers794726722
Maprs794726722
PheGenIrs794726722
hapmaprs794726722
1000 genomesrs794726722
hgdprs794726722
ensemblrs794726722
gopubmedrs794726722
geneviewrs794726722
scholarrs794726722
googlers794726722
pharmgkbrs794726722
gwascentralrs794726722
openSNPrs794726722
23andMers794726722
23andMe allrs794726722
SNP Nexus

SNPshotrs794726722
SNPdbers794726722
MSV3drs794726722
GWAS Ctlgrs794726722
Max Magnitude0
ClinVar
Risk rs794726722(G;G)
Alt rs794726722(G;G)
Reference rs794726722(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.166848521T>C
CLNSRC Peking University
CLNACC RCV000180829.1,