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rs794726752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726752(C;T)
Make rs794726752(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165996021
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726752
ebirs794726752
HLIrs794726752
Exacrs794726752
Varsomers794726752
Maprs794726752
PheGenIrs794726752
hapmaprs794726752
1000 genomesrs794726752
hgdprs794726752
ensemblrs794726752
gopubmedrs794726752
geneviewrs794726752
scholarrs794726752
googlers794726752
pharmgkbrs794726752
gwascentralrs794726752
openSNPrs794726752
23andMers794726752
23andMe allrs794726752
SNP Nexus

SNPshotrs794726752
SNPdbers794726752
MSV3drs794726752
GWAS Ctlgrs794726752
Max Magnitude0
ClinVar
Risk rs794726752(T;T)
Alt rs794726752(T;T)
Reference rs794726752(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166852531G>A
CLNSRC Peking University
CLNACC RCV000180863.1, RCV000188962.2,