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rs794726702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726702(-;-)
Make rs794726702(-;GG)
Make rs794726702(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992024
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726702
ebirs794726702
HLIrs794726702
Exacrs794726702
Varsomers794726702
Maprs794726702
PheGenIrs794726702
hapmaprs794726702
1000 genomesrs794726702
hgdprs794726702
ensemblrs794726702
gopubmedrs794726702
geneviewrs794726702
scholarrs794726702
googlers794726702
pharmgkbrs794726702
gwascentralrs794726702
openSNPrs794726702
23andMers794726702
23andMe allrs794726702
SNP Nexus

SNPshotrs794726702
SNPdbers794726702
MSV3drs794726702
GWAS Ctlgrs794726702
Max Magnitude0
ClinVar
Risk rs794726702(GG;GG)
Alt rs794726702(GG;GG)
Reference rs794726702(;)
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.166848534_166848535insCC
CLNSRC Peking University
CLNACC RCV000180804.1,