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rs794726754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTT;GTTT) 0 common in clinvar
Make rs794726754(-;-)
Make rs794726754(-;GTTT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992262
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726754
ebirs794726754
HLIrs794726754
Exacrs794726754
Varsomers794726754
Maprs794726754
PheGenIrs794726754
hapmaprs794726754
1000 genomesrs794726754
hgdprs794726754
ensemblrs794726754
gopubmedrs794726754
geneviewrs794726754
scholarrs794726754
googlers794726754
pharmgkbrs794726754
gwascentralrs794726754
openSNPrs794726754
23andMers794726754
23andMe allrs794726754
SNP Nexus

SNPshotrs794726754
SNPdbers794726754
MSV3drs794726754
GWAS Ctlgrs794726754
Max Magnitude0
ClinVar
Risk rs794726754(;)
Alt rs794726754(;)
Reference rs794726754(GTTT;GTTT)
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.166848772_166848775delAAAC
CLNSRC Peking University
CLNACC RCV000180866.1, RCV000189065.1,