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rs794726731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726731(A;A)
Make rs794726731(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166012160
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726731
ClinGenrs794726731
ebirs794726731
HLIrs794726731
Exacrs794726731
Varsomers794726731
Maprs794726731
PheGenIrs794726731
hapmaprs794726731
1000 genomesrs794726731
hgdprs794726731
ensemblrs794726731
gopubmedrs794726731
geneviewrs794726731
scholarrs794726731
googlers794726731
pharmgkbrs794726731
gwascentralrs794726731
openSNPrs794726731
23andMers794726731
23andMe allrs794726731
SNP Nexus

SNPshotrs794726731
SNPdbers794726731
MSV3drs794726731
GWAS Ctlgrs794726731
Max Magnitude0
ClinVar
Risk rs794726731(A;A)
Alt rs794726731(A;A)
Reference Rs794726731(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.166868670A>T
CLNSRC Peking University
CLNACC RCV000180839.1,