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rs794726795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726795(A;A)
Make rs794726795(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166042289
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726795
ebirs794726795
HLIrs794726795
Exacrs794726795
Varsomers794726795
Maprs794726795
PheGenIrs794726795
hapmaprs794726795
1000 genomesrs794726795
hgdprs794726795
ensemblrs794726795
gopubmedrs794726795
geneviewrs794726795
scholarrs794726795
googlers794726795
pharmgkbrs794726795
gwascentralrs794726795
openSNPrs794726795
23andMers794726795
23andMe allrs794726795
SNP Nexus

SNPshotrs794726795
SNPdbers794726795
MSV3drs794726795
GWAS Ctlgrs794726795
Max Magnitude0
ClinVar
Risk rs794726795(A;A)
Alt rs794726795(A;A)
Reference rs794726795(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.166898799A>T
CLNSRC Peking University
CLNACC RCV000180912.1,