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rs794726759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726759(C;T)
Make rs794726759(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992342
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726759
ebirs794726759
HLIrs794726759
Exacrs794726759
Varsomers794726759
Maprs794726759
PheGenIrs794726759
hapmaprs794726759
1000 genomesrs794726759
hgdprs794726759
ensemblrs794726759
gopubmedrs794726759
geneviewrs794726759
scholarrs794726759
googlers794726759
pharmgkbrs794726759
gwascentralrs794726759
openSNPrs794726759
23andMers794726759
23andMe allrs794726759
SNP Nexus

SNPshotrs794726759
SNPdbers794726759
MSV3drs794726759
GWAS Ctlgrs794726759
Max Magnitude0
ClinVar
Risk rs794726759(T;T)
Alt rs794726759(T;T)
Reference rs794726759(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.166848852G>A
CLNSRC Peking University
CLNACC RCV000180873.1,