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

rs794726725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726725(A;A)
Make rs794726725(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046948
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726725
ebirs794726725
HLIrs794726725
Exacrs794726725
Varsomers794726725
Maprs794726725
PheGenIrs794726725
hapmaprs794726725
1000 genomesrs794726725
hgdprs794726725
ensemblrs794726725
gopubmedrs794726725
geneviewrs794726725
scholarrs794726725
googlers794726725
pharmgkbrs794726725
gwascentralrs794726725
openSNPrs794726725
23andMers794726725
23andMe allrs794726725
SNP Nexus

SNPshotrs794726725
SNPdbers794726725
MSV3drs794726725
GWAS Ctlgrs794726725
Max Magnitude0
ClinVar
Risk rs794726725(A;A)
Alt rs794726725(A;A)
Reference rs794726725(T;T)
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.166903458A>T
CLNSRC Peking University
CLNACC RCV000180833.1,