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rs794726791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726791(-;-)
Make rs794726791(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position166073437
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726791
ebirs794726791
HLIrs794726791
Exacrs794726791
Varsomers794726791
Maprs794726791
PheGenIrs794726791
hapmaprs794726791
1000 genomesrs794726791
hgdprs794726791
ensemblrs794726791
gopubmedrs794726791
geneviewrs794726791
scholarrs794726791
googlers794726791
pharmgkbrs794726791
gwascentralrs794726791
openSNPrs794726791
23andMers794726791
23andMe allrs794726791
SNP Nexus

SNPshotrs794726791
SNPdbers794726791
MSV3drs794726791
GWAS Ctlgrs794726791
Max Magnitude0
ClinVar
Risk rs794726791(;)
Alt rs794726791(;)
Reference rs794726791(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.166929947delG
CLNSRC Peking University
CLNACC RCV000180907.1,