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rs794726797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726797(C;T)
Make rs794726797(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048889
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726797
ebirs794726797
HLIrs794726797
Exacrs794726797
Varsomers794726797
Maprs794726797
PheGenIrs794726797
hapmaprs794726797
1000 genomesrs794726797
hgdprs794726797
ensemblrs794726797
gopubmedrs794726797
geneviewrs794726797
scholarrs794726797
googlers794726797
pharmgkbrs794726797
gwascentralrs794726797
openSNPrs794726797
23andMers794726797
23andMe allrs794726797
SNP Nexus

SNPshotrs794726797
SNPdbers794726797
MSV3drs794726797
GWAS Ctlgrs794726797
Max Magnitude0
ClinVar
Risk rs794726797(T;T)
Alt rs794726797(T;T)
Reference rs794726797(C;C)
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.166905399G>A
CLNSRC Peking University
CLNACC RCV000180914.1,