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rs794726728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726728(A;A)
Make rs794726728(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166015702
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726728
ebirs794726728
HLIrs794726728
Exacrs794726728
Varsomers794726728
Maprs794726728
PheGenIrs794726728
hapmaprs794726728
1000 genomesrs794726728
hgdprs794726728
ensemblrs794726728
gopubmedrs794726728
geneviewrs794726728
scholarrs794726728
googlers794726728
pharmgkbrs794726728
gwascentralrs794726728
openSNPrs794726728
23andMers794726728
23andMe allrs794726728
SNP Nexus

SNPshotrs794726728
SNPdbers794726728
MSV3drs794726728
GWAS Ctlgrs794726728
Max Magnitude0
ClinVar
Risk rs794726728(A;A)
Alt rs794726728(A;A)
Reference rs794726728(C;C)
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.166872212G>T
CLNSRC Peking University
CLNACC RCV000180837.1,