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rs794726805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726805(G;G)
Make rs794726805(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039533
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726805
ebirs794726805
HLIrs794726805
Exacrs794726805
Varsomers794726805
Maprs794726805
PheGenIrs794726805
hapmaprs794726805
1000 genomesrs794726805
hgdprs794726805
ensemblrs794726805
gopubmedrs794726805
geneviewrs794726805
scholarrs794726805
googlers794726805
pharmgkbrs794726805
gwascentralrs794726805
openSNPrs794726805
23andMers794726805
23andMe allrs794726805
SNP Nexus

SNPshotrs794726805
SNPdbers794726805
MSV3drs794726805
GWAS Ctlgrs794726805
Max Magnitude0
ClinVar
Risk rs794726805(G;G)
Alt rs794726805(G;G)
Reference rs794726805(T;T)
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.166896043A>C
CLNSRC Peking University
CLNACC RCV000180925.1,