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rs794726699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726699(A;A)
Make rs794726699(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165999759
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726699
ebirs794726699
HLIrs794726699
Exacrs794726699
Varsomers794726699
Maprs794726699
PheGenIrs794726699
hapmaprs794726699
1000 genomesrs794726699
hgdprs794726699
ensemblrs794726699
gopubmedrs794726699
geneviewrs794726699
scholarrs794726699
googlers794726699
pharmgkbrs794726699
gwascentralrs794726699
openSNPrs794726699
23andMers794726699
23andMe allrs794726699
SNP Nexus

SNPshotrs794726699
SNPdbers794726699
MSV3drs794726699
GWAS Ctlgrs794726699
Max Magnitude0
ClinVar
Risk rs794726699(A;A)
Alt rs794726699(A;A)
Reference rs794726699(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.166856269C>T
CLNSRC Peking University
CLNACC RCV000180800.1,