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rs794726830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs794726830(-;-)
Make rs794726830(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036496
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726830
ebirs794726830
HLIrs794726830
Exacrs794726830
Varsomers794726830
Maprs794726830
PheGenIrs794726830
hapmaprs794726830
1000 genomesrs794726830
hgdprs794726830
ensemblrs794726830
gopubmedrs794726830
geneviewrs794726830
scholarrs794726830
googlers794726830
pharmgkbrs794726830
gwascentralrs794726830
openSNPrs794726830
23andMers794726830
23andMe allrs794726830
SNP Nexus

SNPshotrs794726830
SNPdbers794726830
MSV3drs794726830
GWAS Ctlgrs794726830
Max Magnitude0
ClinVar
Risk rs794726830(;)
Alt rs794726830(;)
Reference rs794726830(TC;TC)
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.166893006_166893007delGA
CLNSRC Peking University
CLNACC RCV000180957.1,