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rs794726781

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726781(C;T)
Make rs794726781(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991814
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726781
ebirs794726781
HLIrs794726781
Exacrs794726781
Varsomers794726781
Maprs794726781
PheGenIrs794726781
hapmaprs794726781
1000 genomesrs794726781
hgdprs794726781
ensemblrs794726781
gopubmedrs794726781
geneviewrs794726781
scholarrs794726781
googlers794726781
pharmgkbrs794726781
gwascentralrs794726781
openSNPrs794726781
23andMers794726781
23andMe allrs794726781
SNP Nexus

SNPshotrs794726781
SNPdbers794726781
MSV3drs794726781
GWAS Ctlgrs794726781
Max Magnitude0
ClinVar
Risk rs794726781(T;T)
Alt rs794726781(T;T)
Reference rs794726781(C;C)
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.166848324G>A
CLNSRC Peking University
CLNACC RCV000180897.1,