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rs794726824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726824(A;A)
Make rs794726824(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048950
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726824
ebirs794726824
HLIrs794726824
Exacrs794726824
Varsomers794726824
Maprs794726824
PheGenIrs794726824
hapmaprs794726824
1000 genomesrs794726824
hgdprs794726824
ensemblrs794726824
gopubmedrs794726824
geneviewrs794726824
scholarrs794726824
googlers794726824
pharmgkbrs794726824
gwascentralrs794726824
openSNPrs794726824
23andMers794726824
23andMe allrs794726824
SNP Nexus

SNPshotrs794726824
SNPdbers794726824
MSV3drs794726824
GWAS Ctlgrs794726824
Max Magnitude0
ClinVar
Risk rs794726824(A;A)
Alt rs794726824(A;A)
Reference rs794726824(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.166905460C>T
CLNSRC Peking University
CLNACC RCV000180949.1, RCV000188853.1,