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rs121917962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917962(A;G)
Make rs121917962(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165998129
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917962
ebirs121917962
HLIrs121917962
Exacrs121917962
Varsomers121917962
Maprs121917962
PheGenIrs121917962
hapmaprs121917962
1000 genomesrs121917962
hgdprs121917962
ensemblrs121917962
gopubmedrs121917962
geneviewrs121917962
scholarrs121917962
googlers121917962
pharmgkbrs121917962
gwascentralrs121917962
openSNPrs121917962
23andMers121917962
23andMe allrs121917962
SNP Nexus

SNPshotrs121917962
SNPdbers121917962
MSV3drs121917962
GWAS Ctlgrs121917962
Max Magnitude0
ClinVar
Risk rs121917962(G;G)
Alt rs121917962(G;G)
Reference rs121917962(A;A)
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.166854639T>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059419.1, RCV000188952.1,