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rs794726712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726712(G;G)
Make rs794726712(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039424
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726712
ebirs794726712
HLIrs794726712
Exacrs794726712
Varsomers794726712
Maprs794726712
PheGenIrs794726712
hapmaprs794726712
1000 genomesrs794726712
hgdprs794726712
ensemblrs794726712
gopubmedrs794726712
geneviewrs794726712
scholarrs794726712
googlers794726712
pharmgkbrs794726712
gwascentralrs794726712
openSNPrs794726712
23andMers794726712
23andMe allrs794726712
SNP Nexus

SNPshotrs794726712
SNPdbers794726712
MSV3drs794726712
GWAS Ctlgrs794726712
Max Magnitude0
ClinVar
Risk rs794726712(G;G)
Alt rs794726712(G;G)
Reference rs794726712(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.166895934A>C
CLNSRC Peking University
CLNACC RCV000180816.1,