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rs121917981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917981(C;C)
Make rs121917981(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991510
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917981
ebirs121917981
HLIrs121917981
Exacrs121917981
Varsomers121917981
Maprs121917981
PheGenIrs121917981
hapmaprs121917981
1000 genomesrs121917981
hgdprs121917981
ensemblrs121917981
gopubmedrs121917981
geneviewrs121917981
scholarrs121917981
googlers121917981
pharmgkbrs121917981
gwascentralrs121917981
openSNPrs121917981
23andMers121917981
23andMe allrs121917981
SNP Nexus

SNPshotrs121917981
SNPdbers121917981
MSV3drs121917981
GWAS Ctlgrs121917981
Max Magnitude0
ClinVar
Risk rs121917981(C;C)
Alt rs121917981(C;C)
Reference rs121917981(T;T)
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.166848020A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059449.1, RCV000189020.1,