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rs121917965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917965(C;T)
Make rs121917965(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166058652
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917965
ebirs121917965
HLIrs121917965
Exacrs121917965
Varsomers121917965
Maprs121917965
PheGenIrs121917965
hapmaprs121917965
1000 genomesrs121917965
hgdprs121917965
ensemblrs121917965
gopubmedrs121917965
geneviewrs121917965
scholarrs121917965
googlers121917965
pharmgkbrs121917965
gwascentralrs121917965
openSNPrs121917965
23andMers121917965
23andMe allrs121917965
SNP Nexus

SNPshotrs121917965
SNPdbers121917965
MSV3drs121917965
GWAS Ctlgrs121917965
Max Magnitude0
ClinVar
Risk rs121917965(T;T)
Alt rs121917965(T;T)
Reference rs121917965(C;C)
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.166915162G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059399.2,