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rs121917976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917976(A;A)
Make rs121917976(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992341
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917976
ebirs121917976
HLIrs121917976
Exacrs121917976
Varsomers121917976
Maprs121917976
PheGenIrs121917976
hapmaprs121917976
1000 genomesrs121917976
hgdprs121917976
ensemblrs121917976
gopubmedrs121917976
geneviewrs121917976
scholarrs121917976
googlers121917976
pharmgkbrs121917976
gwascentralrs121917976
openSNPrs121917976
23andMers121917976
23andMe allrs121917976
SNP Nexus

SNPshotrs121917976
SNPdbers121917976
MSV3drs121917976
GWAS Ctlgrs121917976
Max Magnitude0
ClinVar
Risk rs121917976(A,C;A,C)
Alt rs121917976(A,C;A,C)
Reference rs121917976(G;G)
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.166848851C>G; NC_000002.11:g.166848851C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180961.1, RCV000059432.1, RCV000188986.1,