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rs794726756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGGA;AAGGA) 0 common in clinvar
Make rs794726756(-;-)
Make rs794726756(-;AAGGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036411
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726756
ebirs794726756
HLIrs794726756
Exacrs794726756
Varsomers794726756
Maprs794726756
PheGenIrs794726756
hapmaprs794726756
1000 genomesrs794726756
hgdprs794726756
ensemblrs794726756
gopubmedrs794726756
geneviewrs794726756
scholarrs794726756
googlers794726756
pharmgkbrs794726756
gwascentralrs794726756
openSNPrs794726756
23andMers794726756
23andMe allrs794726756
SNP Nexus

SNPshotrs794726756
SNPdbers794726756
MSV3drs794726756
GWAS Ctlgrs794726756
Max Magnitude0
ClinVar
Risk rs794726756(;)
Alt rs794726756(;)
Reference rs794726756(AAGGA;AAGGA)
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.166892921_166892925delTCCTT
CLNSRC Peking University
CLNACC RCV000180868.1,