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rs121917937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917937(G;G)
Make rs121917937(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166052866
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917937
ebirs121917937
HLIrs121917937
Exacrs121917937
Varsomers121917937
Maprs121917937
PheGenIrs121917937
hapmaprs121917937
1000 genomesrs121917937
hgdprs121917937
ensemblrs121917937
gopubmedrs121917937
geneviewrs121917937
scholarrs121917937
googlers121917937
pharmgkbrs121917937
gwascentralrs121917937
openSNPrs121917937
23andMers121917937
23andMe allrs121917937
SNP Nexus

SNPshotrs121917937
SNPdbers121917937
MSV3drs121917937
GWAS Ctlgrs121917937
Max Magnitude0
ClinVar
Risk rs121917937(G;G)
Alt rs121917937(G;G)
Reference rs121917937(T;T)
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.166909376A>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059455.2, RCV000188842.1,