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rs794726798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726798(A;A)
Make rs794726798(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048907
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726798
ebirs794726798
HLIrs794726798
Exacrs794726798
Varsomers794726798
Maprs794726798
PheGenIrs794726798
hapmaprs794726798
1000 genomesrs794726798
hgdprs794726798
ensemblrs794726798
gopubmedrs794726798
geneviewrs794726798
scholarrs794726798
googlers794726798
pharmgkbrs794726798
gwascentralrs794726798
openSNPrs794726798
23andMers794726798
23andMe allrs794726798
SNP Nexus

SNPshotrs794726798
SNPdbers794726798
MSV3drs794726798
GWAS Ctlgrs794726798
Max Magnitude0
ClinVar
Risk rs794726798(A;A)
Alt rs794726798(A;A)
Reference rs794726798(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.166905417C>T
CLNSRC Peking University
CLNACC RCV000180916.1,