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rs121917984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917984(C;T)
Make rs121917984(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166052869
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917984
ebirs121917984
HLIrs121917984
Exacrs121917984
Varsomers121917984
Maprs121917984
PheGenIrs121917984
hapmaprs121917984
1000 genomesrs121917984
hgdprs121917984
ensemblrs121917984
gopubmedrs121917984
geneviewrs121917984
scholarrs121917984
googlers121917984
pharmgkbrs121917984
gwascentralrs121917984
openSNPrs121917984
23andMers121917984
23andMe allrs121917984
SNP Nexus

SNPshotrs121917984
SNPdbers121917984
MSV3drs121917984
GWAS Ctlgrs121917984
Max Magnitude0
ClinVar
Risk rs121917984(G,T;G,T)
Alt rs121917984(G,T;G,T)
Reference rs121917984(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166909379G>A; NC_000002.11:g.166909379G>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059454.1, RCV000188843.1, RCV000189074.1,