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rs121917926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917926(C;C)
Make rs121917926(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992129
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917926
ebirs121917926
HLIrs121917926
Exacrs121917926
Varsomers121917926
Maprs121917926
PheGenIrs121917926
hapmaprs121917926
1000 genomesrs121917926
hgdprs121917926
ensemblrs121917926
gopubmedrs121917926
geneviewrs121917926
scholarrs121917926
googlers121917926
pharmgkbrs121917926
gwascentralrs121917926
openSNPrs121917926
23andMers121917926
23andMe allrs121917926
SNP Nexus

SNPshotrs121917926
SNPdbers121917926
MSV3drs121917926
GWAS Ctlgrs121917926
Max Magnitude0
ClinVar
Risk rs121917926(C;C)
Alt rs121917926(C;C)
Reference rs121917926(T;T)
Significance 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.166848639A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059440.1, RCV000188987.2,