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rs794726774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726774(-;-)
Make rs794726774(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166015670
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726774
ebirs794726774
HLIrs794726774
Exacrs794726774
Varsomers794726774
Maprs794726774
PheGenIrs794726774
hapmaprs794726774
1000 genomesrs794726774
hgdprs794726774
ensemblrs794726774
gopubmedrs794726774
geneviewrs794726774
scholarrs794726774
googlers794726774
pharmgkbrs794726774
gwascentralrs794726774
openSNPrs794726774
23andMers794726774
23andMe allrs794726774
SNP Nexus

SNPshotrs794726774
SNPdbers794726774
MSV3drs794726774
GWAS Ctlgrs794726774
Max Magnitude0
ClinVar
Risk rs794726774(;)
Alt rs794726774(;)
Reference rs794726774(G;G)
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.166872180delC
CLNSRC Peking University
CLNACC RCV000180890.1,