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rs794726772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726772(G;T)
Make rs794726772(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166037775
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726772
ebirs794726772
HLIrs794726772
Exacrs794726772
Varsomers794726772
Maprs794726772
PheGenIrs794726772
hapmaprs794726772
1000 genomesrs794726772
hgdprs794726772
ensemblrs794726772
gopubmedrs794726772
geneviewrs794726772
scholarrs794726772
googlers794726772
pharmgkbrs794726772
gwascentralrs794726772
openSNPrs794726772
23andMers794726772
23andMe allrs794726772
SNP Nexus

SNPshotrs794726772
SNPdbers794726772
MSV3drs794726772
GWAS Ctlgrs794726772
Max Magnitude0
ClinVar
Risk rs794726772(T;T)
Alt rs794726772(T;T)
Reference rs794726772(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166894285C>A
CLNSRC Peking University
CLNACC RCV000180888.1, RCV000188902.1,