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rs794726737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726737(C;C)
Make rs794726737(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991495
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726737
ebirs794726737
HLIrs794726737
Exacrs794726737
Varsomers794726737
Maprs794726737
PheGenIrs794726737
hapmaprs794726737
1000 genomesrs794726737
hgdprs794726737
ensemblrs794726737
gopubmedrs794726737
geneviewrs794726737
scholarrs794726737
googlers794726737
pharmgkbrs794726737
gwascentralrs794726737
openSNPrs794726737
23andMers794726737
23andMe allrs794726737
SNP Nexus

SNPshotrs794726737
SNPdbers794726737
MSV3drs794726737
GWAS Ctlgrs794726737
Max Magnitude0
ClinVar
Risk rs794726737(C;C)
Alt rs794726737(C;C)
Reference rs794726737(G;G)
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.166848005C>G
CLNSRC Peking University
CLNACC RCV000180845.1,