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rs794726802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726802(A;T)
Make rs794726802(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165992167
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726802
ebirs794726802
HLIrs794726802
Exacrs794726802
Varsomers794726802
Maprs794726802
PheGenIrs794726802
hapmaprs794726802
1000 genomesrs794726802
hgdprs794726802
ensemblrs794726802
gopubmedrs794726802
geneviewrs794726802
scholarrs794726802
googlers794726802
pharmgkbrs794726802
gwascentralrs794726802
openSNPrs794726802
23andMers794726802
23andMe allrs794726802
SNP Nexus

SNPshotrs794726802
SNPdbers794726802
MSV3drs794726802
GWAS Ctlgrs794726802
Max Magnitude0
ClinVar
Risk rs794726802(T;T)
Alt rs794726802(T;T)
Reference rs794726802(A;A)
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.166848677T>A
CLNSRC Peking University
CLNACC RCV000180920.1,