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rs794726716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726716(A;A)
Make rs794726716(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037846
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726716
ebirs794726716
HLIrs794726716
Exacrs794726716
Varsomers794726716
Maprs794726716
PheGenIrs794726716
hapmaprs794726716
1000 genomesrs794726716
hgdprs794726716
ensemblrs794726716
gopubmedrs794726716
geneviewrs794726716
scholarrs794726716
googlers794726716
pharmgkbrs794726716
gwascentralrs794726716
openSNPrs794726716
23andMers794726716
23andMe allrs794726716
SNP Nexus

SNPshotrs794726716
SNPdbers794726716
MSV3drs794726716
GWAS Ctlgrs794726716
Max Magnitude0
ClinVar
Risk rs794726716(A;A)
Alt rs794726716(A;A)
Reference rs794726716(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.166894356C>T
CLNSRC Peking University
CLNACC RCV000180820.1,