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rs121917938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917938(C;C)
Make rs121917938(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166051845
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917938
ebirs121917938
HLIrs121917938
Exacrs121917938
Varsomers121917938
Maprs121917938
PheGenIrs121917938
hapmaprs121917938
1000 genomesrs121917938
hgdprs121917938
ensemblrs121917938
gopubmedrs121917938
geneviewrs121917938
scholarrs121917938
googlers121917938
pharmgkbrs121917938
gwascentralrs121917938
openSNPrs121917938
23andMers121917938
23andMe allrs121917938
SNP Nexus

SNPshotrs121917938
SNPdbers121917938
MSV3drs121917938
GWAS Ctlgrs121917938
Max Magnitude0
ClinVar
Risk rs121917938(C;C)
Alt rs121917938(C;C)
Reference rs121917938(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908355A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059459.2,