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rs794726773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726773(A;G)
Make rs794726773(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166045040
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726773
ebirs794726773
HLIrs794726773
Exacrs794726773
Varsomers794726773
Maprs794726773
PheGenIrs794726773
hapmaprs794726773
1000 genomesrs794726773
hgdprs794726773
ensemblrs794726773
gopubmedrs794726773
geneviewrs794726773
scholarrs794726773
googlers794726773
pharmgkbrs794726773
gwascentralrs794726773
openSNPrs794726773
23andMers794726773
23andMe allrs794726773
SNP Nexus

SNPshotrs794726773
SNPdbers794726773
MSV3drs794726773
GWAS Ctlgrs794726773
Max Magnitude0
ClinVar
Risk rs794726773(G;G)
Alt rs794726773(G;G)
Reference rs794726773(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166901550T>C
CLNSRC Peking University
CLNACC RCV000180889.1,