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rs121917919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917919(C;C)
Make rs121917919(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165994236
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917919
ebirs121917919
HLIrs121917919
Exacrs121917919
Varsomers121917919
Maprs121917919
PheGenIrs121917919
hapmaprs121917919
1000 genomesrs121917919
hgdprs121917919
ensemblrs121917919
gopubmedrs121917919
geneviewrs121917919
scholarrs121917919
googlers121917919
pharmgkbrs121917919
gwascentralrs121917919
openSNPrs121917919
23andMers121917919
23andMe allrs121917919
SNP Nexus

SNPshotrs121917919
SNPdbers121917919
MSV3drs121917919
GWAS Ctlgrs121917919
Max Magnitude0
ClinVar
Risk rs121917919(C;C)
Alt rs121917919(C;C)
Reference rs121917919(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.166850746A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059426.1, RCV000188974.2,