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rs794726715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726715(-;-)
Make rs794726715(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037776
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726715
ebirs794726715
HLIrs794726715
Exacrs794726715
Varsomers794726715
Maprs794726715
PheGenIrs794726715
hapmaprs794726715
1000 genomesrs794726715
hgdprs794726715
ensemblrs794726715
gopubmedrs794726715
geneviewrs794726715
scholarrs794726715
googlers794726715
pharmgkbrs794726715
gwascentralrs794726715
openSNPrs794726715
23andMers794726715
23andMe allrs794726715
SNP Nexus

SNPshotrs794726715
SNPdbers794726715
MSV3drs794726715
GWAS Ctlgrs794726715
Max Magnitude0
ClinVar
Risk rs794726715(;)
Alt rs794726715(;)
Reference rs794726715(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166894286delC
CLNSRC Peking University
CLNACC RCV000180819.1,