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rs794726825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726825(-;-)
Make rs794726825(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165996040
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726825
ebirs794726825
HLIrs794726825
Exacrs794726825
Varsomers794726825
Maprs794726825
PheGenIrs794726825
hapmaprs794726825
1000 genomesrs794726825
hgdprs794726825
ensemblrs794726825
gopubmedrs794726825
geneviewrs794726825
scholarrs794726825
googlers794726825
pharmgkbrs794726825
gwascentralrs794726825
openSNPrs794726825
23andMers794726825
23andMe allrs794726825
SNP Nexus

SNPshotrs794726825
SNPdbers794726825
MSV3drs794726825
GWAS Ctlgrs794726825
Max Magnitude0
ClinVar
Risk rs794726825(;)
Alt rs794726825(;)
Reference rs794726825(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.166852550delT
CLNSRC Peking University
CLNACC RCV000180950.1,