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rs121917980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917980(A;A)
Make rs121917980(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991928
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917980
ebirs121917980
HLIrs121917980
Exacrs121917980
Varsomers121917980
Maprs121917980
PheGenIrs121917980
hapmaprs121917980
1000 genomesrs121917980
hgdprs121917980
ensemblrs121917980
gopubmedrs121917980
geneviewrs121917980
scholarrs121917980
googlers121917980
pharmgkbrs121917980
gwascentralrs121917980
openSNPrs121917980
23andMers121917980
23andMe allrs121917980
SNP Nexus

SNPshotrs121917980
SNPdbers121917980
MSV3drs121917980
GWAS Ctlgrs121917980
Max Magnitude0
ClinVar
Risk rs121917980(A;A)
Alt rs121917980(A;A)
Reference rs121917980(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.166848438C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059445.2, RCV000188999.2,