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rs794726714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs794726714(-;-)
Make rs794726714(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037774
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726714
ebirs794726714
HLIrs794726714
Exacrs794726714
Varsomers794726714
Maprs794726714
PheGenIrs794726714
hapmaprs794726714
1000 genomesrs794726714
hgdprs794726714
ensemblrs794726714
gopubmedrs794726714
geneviewrs794726714
scholarrs794726714
googlers794726714
pharmgkbrs794726714
gwascentralrs794726714
openSNPrs794726714
23andMers794726714
23andMe allrs794726714
SNP Nexus

SNPshotrs794726714
SNPdbers794726714
MSV3drs794726714
GWAS Ctlgrs794726714
Max Magnitude0
ClinVar
Risk rs794726714(;)
Alt rs794726714(;)
Reference rs794726714(GT;GT)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166894284_166894285delAC
CLNSRC Peking University
CLNACC RCV000180818.1,