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rs794726806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726806(-;-)
Make rs794726806(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166042368
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726806
ebirs794726806
HLIrs794726806
Exacrs794726806
Varsomers794726806
Maprs794726806
PheGenIrs794726806
hapmaprs794726806
1000 genomesrs794726806
hgdprs794726806
ensemblrs794726806
gopubmedrs794726806
geneviewrs794726806
scholarrs794726806
googlers794726806
pharmgkbrs794726806
gwascentralrs794726806
openSNPrs794726806
23andMers794726806
23andMe allrs794726806
SNP Nexus

SNPshotrs794726806
SNPdbers794726806
MSV3drs794726806
GWAS Ctlgrs794726806
Max Magnitude0
ClinVar
Risk rs794726806(;)
Alt rs794726806(;)
Reference rs794726806(C;C)
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.166898878delG
CLNSRC Peking University
CLNACC RCV000180926.1,