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rs794726787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726787(-;-)
Make rs794726787(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166038119
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726787
ebirs794726787
HLIrs794726787
Exacrs794726787
Varsomers794726787
Maprs794726787
PheGenIrs794726787
hapmaprs794726787
1000 genomesrs794726787
hgdprs794726787
ensemblrs794726787
gopubmedrs794726787
geneviewrs794726787
scholarrs794726787
googlers794726787
pharmgkbrs794726787
gwascentralrs794726787
openSNPrs794726787
23andMers794726787
23andMe allrs794726787
SNP Nexus

SNPshotrs794726787
SNPdbers794726787
MSV3drs794726787
GWAS Ctlgrs794726787
Max Magnitude0
ClinVar
Risk rs794726787(;)
Alt rs794726787(;)
Reference rs794726787(A;A)
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.166894629delT
CLNSRC Peking University
CLNACC RCV000180903.1,