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rs794726747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726747(A;T)
Make rs794726747(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166042397
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726747
ebirs794726747
HLIrs794726747
Exacrs794726747
Varsomers794726747
Maprs794726747
PheGenIrs794726747
hapmaprs794726747
1000 genomesrs794726747
hgdprs794726747
ensemblrs794726747
gopubmedrs794726747
geneviewrs794726747
scholarrs794726747
googlers794726747
pharmgkbrs794726747
gwascentralrs794726747
openSNPrs794726747
23andMers794726747
23andMe allrs794726747
SNP Nexus

SNPshotrs794726747
SNPdbers794726747
MSV3drs794726747
GWAS Ctlgrs794726747
Max Magnitude0
ClinVar
Risk rs794726747(T;T)
Alt rs794726747(T;T)
Reference rs794726747(A;A)
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.166898907T>A
CLNSRC Peking University
CLNACC RCV000180858.1,