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rs121917912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917912(A;A)
Make rs121917912(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166012254
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917912
ebirs121917912
HLIrs121917912
Exacrs121917912
Varsomers121917912
Maprs121917912
PheGenIrs121917912
hapmaprs121917912
1000 genomesrs121917912
hgdprs121917912
ensemblrs121917912
gopubmedrs121917912
geneviewrs121917912
scholarrs121917912
googlers121917912
pharmgkbrs121917912
gwascentralrs121917912
openSNPrs121917912
23andMers121917912
23andMe allrs121917912
SNP Nexus

SNPshotrs121917912
SNPdbers121917912
MSV3drs121917912
GWAS Ctlgrs121917912
Max Magnitude0
ClinVar
Risk rs121917912(A;A)
Alt rs121917912(A;A)
Reference rs121917912(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.166868764C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059406.1, RCV000188926.1,