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rs794726785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726785(-;-)
Make rs794726785(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165994175
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726785
ebirs794726785
HLIrs794726785
Exacrs794726785
Varsomers794726785
Maprs794726785
PheGenIrs794726785
hapmaprs794726785
1000 genomesrs794726785
hgdprs794726785
ensemblrs794726785
gopubmedrs794726785
geneviewrs794726785
scholarrs794726785
googlers794726785
pharmgkbrs794726785
gwascentralrs794726785
openSNPrs794726785
23andMers794726785
23andMe allrs794726785
SNP Nexus

SNPshotrs794726785
SNPdbers794726785
MSV3drs794726785
GWAS Ctlgrs794726785
Max Magnitude0
ClinVar
Risk rs794726785(;)
Alt rs794726785(;)
Reference rs794726785(A;A)
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.166850685delT
CLNSRC Peking University
CLNACC RCV000180901.1,