Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs794726738(-;-)
Make rs794726738(-;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039488
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726738
ebirs794726738
HLIrs794726738
Exacrs794726738
Varsomers794726738
Maprs794726738
PheGenIrs794726738
hapmaprs794726738
1000 genomesrs794726738
hgdprs794726738
ensemblrs794726738
gopubmedrs794726738
geneviewrs794726738
scholarrs794726738
googlers794726738
pharmgkbrs794726738
gwascentralrs794726738
openSNPrs794726738
23andMers794726738
23andMe allrs794726738
SNP Nexus

SNPshotrs794726738
SNPdbers794726738
MSV3drs794726738
GWAS Ctlgrs794726738
Max Magnitude0
ClinVar
Risk rs794726738(;)
Alt rs794726738(;)
Reference rs794726738(GC;GC)
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.166895998_166895999delGC
CLNSRC Peking University
CLNACC RCV000180847.1,