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rs794727337

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727337(A;A)
Make rs794727337(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002532
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794727337
ebirs794727337
HLIrs794727337
Exacrs794727337
Varsomers794727337
Maprs794727337
PheGenIrs794727337
hapmaprs794727337
1000 genomesrs794727337
hgdprs794727337
ensemblrs794727337
gopubmedrs794727337
geneviewrs794727337
scholarrs794727337
googlers794727337
pharmgkbrs794727337
gwascentralrs794727337
openSNPrs794727337
23andMers794727337
23andMe allrs794727337
SNP Nexus

SNPshotrs794727337
SNPdbers794727337
MSV3drs794727337
GWAS Ctlgrs794727337
Max Magnitude0
ClinVar
Risk rs794727337(A;A)
Alt rs794727337(A;A)
Reference rs794727337(G;G)
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.166859042C>T
CLNSRC
CLNACC RCV000176175.1,