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rs121917922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917922(C;G)
Make rs121917922(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992302
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917922
ebirs121917922
HLIrs121917922
Exacrs121917922
Varsomers121917922
Maprs121917922
PheGenIrs121917922
hapmaprs121917922
1000 genomesrs121917922
hgdprs121917922
ensemblrs121917922
gopubmedrs121917922
geneviewrs121917922
scholarrs121917922
googlers121917922
pharmgkbrs121917922
gwascentralrs121917922
openSNPrs121917922
23andMers121917922
23andMe allrs121917922
SNP Nexus

SNPshotrs121917922
SNPdbers121917922
MSV3drs121917922
GWAS Ctlgrs121917922
Max Magnitude0
ClinVar
Risk rs121917922(G,T;G,T)
Alt rs121917922(G,T;G,T)
Reference rs121917922(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848812G>A; NC_000002.11:g.166848812G>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059523.2, RCV000059435.1,