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rs794726758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726758(-;-)
Make rs794726758(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992272
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726758
ebirs794726758
HLIrs794726758
Exacrs794726758
Varsomers794726758
Maprs794726758
PheGenIrs794726758
hapmaprs794726758
1000 genomesrs794726758
hgdprs794726758
ensemblrs794726758
gopubmedrs794726758
geneviewrs794726758
scholarrs794726758
googlers794726758
pharmgkbrs794726758
gwascentralrs794726758
openSNPrs794726758
23andMers794726758
23andMe allrs794726758
SNP Nexus

SNPshotrs794726758
SNPdbers794726758
MSV3drs794726758
GWAS Ctlgrs794726758
Max Magnitude0
ClinVar
Risk rs794726758(;)
Alt rs794726758(;)
Reference rs794726758(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848782delG
CLNSRC Peking University
CLNACC RCV000180871.1,