Have questions? Visit https://www.reddit.com/r/SNPedia

rs794726804

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726804(A;A)
Make rs794726804(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992169
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726804
ebirs794726804
HLIrs794726804
Exacrs794726804
Varsomers794726804
Maprs794726804
PheGenIrs794726804
hapmaprs794726804
1000 genomesrs794726804
hgdprs794726804
ensemblrs794726804
gopubmedrs794726804
geneviewrs794726804
scholarrs794726804
googlers794726804
pharmgkbrs794726804
gwascentralrs794726804
openSNPrs794726804
23andMers794726804
23andMe allrs794726804
SNP Nexus

SNPshotrs794726804
SNPdbers794726804
MSV3drs794726804
GWAS Ctlgrs794726804
Max Magnitude0
ClinVar
Risk rs794726804(A;A)
Alt rs794726804(A;A)
Reference rs794726804(T;T)
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.166848679A>T
CLNSRC Peking University
CLNACC RCV000180924.1,