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rs794726735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726735(A;A)
Make rs794726735(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013742
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726735
ebirs794726735
HLIrs794726735
Exacrs794726735
Varsomers794726735
Maprs794726735
PheGenIrs794726735
hapmaprs794726735
1000 genomesrs794726735
hgdprs794726735
ensemblrs794726735
gopubmedrs794726735
geneviewrs794726735
scholarrs794726735
googlers794726735
pharmgkbrs794726735
gwascentralrs794726735
openSNPrs794726735
23andMers794726735
23andMe allrs794726735
SNP Nexus

SNPshotrs794726735
SNPdbers794726735
MSV3drs794726735
GWAS Ctlgrs794726735
Max Magnitude0
ClinVar
Risk rs794726735(A;A)
Alt rs794726735(A;A)
Reference rs794726735(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.166870252A>T
CLNSRC Peking University
CLNACC RCV000180843.1,