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rs794726801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726801(C;G)
Make rs794726801(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991760
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726801
ebirs794726801
HLIrs794726801
Exacrs794726801
Varsomers794726801
Maprs794726801
PheGenIrs794726801
hapmaprs794726801
1000 genomesrs794726801
hgdprs794726801
ensemblrs794726801
gopubmedrs794726801
geneviewrs794726801
scholarrs794726801
googlers794726801
pharmgkbrs794726801
gwascentralrs794726801
openSNPrs794726801
23andMers794726801
23andMe allrs794726801
SNP Nexus

SNPshotrs794726801
SNPdbers794726801
MSV3drs794726801
GWAS Ctlgrs794726801
Max Magnitude0
ClinVar
Risk rs794726801(G;G)
Alt rs794726801(G;G)
Reference rs794726801(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.166848270G>C
CLNSRC Peking University
CLNACC RCV000180919.1,