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rs794726703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs794726703(-;-)
Make rs794726703(-;CTC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992023
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726703
ebirs794726703
HLIrs794726703
Exacrs794726703
Varsomers794726703
Maprs794726703
PheGenIrs794726703
hapmaprs794726703
1000 genomesrs794726703
hgdprs794726703
ensemblrs794726703
gopubmedrs794726703
geneviewrs794726703
scholarrs794726703
googlers794726703
pharmgkbrs794726703
gwascentralrs794726703
openSNPrs794726703
23andMers794726703
23andMe allrs794726703
SNP Nexus

SNPshotrs794726703
SNPdbers794726703
MSV3drs794726703
GWAS Ctlgrs794726703
Max Magnitude0
ClinVar
Risk rs794726703(;)
Alt rs794726703(;)
Reference rs794726703(CTC;CTC)
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.166848533_166848535delGAG
CLNSRC Peking University
CLNACC RCV000180805.1,