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rs121918793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918793(C;T)
Make rs121918793(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991549
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918793
dbSNP (old)rs121918793
ClinGenrs121918793
ebirs121918793
HLIrs121918793
Exacrs121918793
Gnomadrs121918793
Varsomers121918793
LitVarrs121918793
Maprs121918793
PheGenIrs121918793
Biobankrs121918793
1000 genomesrs121918793
hgdprs121918793
ensemblrs121918793
gopubmedrs121918793
geneviewrs121918793
scholarrs121918793
googlers121918793
pharmgkbrs121918793
gwascentralrs121918793
openSNPrs121918793
23andMers121918793
23andMe allrs121918793
SNPshotrs121918793
SNPdbers121918793
MSV3drs121918793
GWAS Ctlgrs121918793
Max Magnitude0
ClinVar
Risk rs121918793(T;T)
Alt rs121918793(T;T)
Reference Rs121918793(C;C)
Significance Probable-Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166848059G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059549.1, RCV000494436.1,