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rs794726813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726813(-;-)
Make rs794726813(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036460
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726813
ebirs794726813
HLIrs794726813
Exacrs794726813
Varsomers794726813
Maprs794726813
PheGenIrs794726813
hapmaprs794726813
1000 genomesrs794726813
hgdprs794726813
ensemblrs794726813
gopubmedrs794726813
geneviewrs794726813
scholarrs794726813
googlers794726813
pharmgkbrs794726813
gwascentralrs794726813
openSNPrs794726813
23andMers794726813
23andMe allrs794726813
SNP Nexus

SNPshotrs794726813
SNPdbers794726813
MSV3drs794726813
GWAS Ctlgrs794726813
Max Magnitude0
ClinVar
Risk rs794726813(;)
Alt rs794726813(;)
Reference rs794726813(A;A)
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.166892970delT
CLNSRC Peking University
CLNACC RCV000180935.1,