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rs794726710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726710(C;T)
Make rs794726710(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166013812
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726710
ebirs794726710
HLIrs794726710
Exacrs794726710
Varsomers794726710
Maprs794726710
PheGenIrs794726710
hapmaprs794726710
1000 genomesrs794726710
hgdprs794726710
ensemblrs794726710
gopubmedrs794726710
geneviewrs794726710
scholarrs794726710
googlers794726710
pharmgkbrs794726710
gwascentralrs794726710
openSNPrs794726710
23andMers794726710
23andMe allrs794726710
SNP Nexus

SNPshotrs794726710
SNPdbers794726710
MSV3drs794726710
GWAS Ctlgrs794726710
Max Magnitude0
ClinVar
Risk rs794726710(T;T)
Alt rs794726710(T;T)
Reference rs794726710(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.166870322G>A
CLNSRC Quest Diagnostics
CLNACC RCV000180814.3, RCV000189082.1,