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rs121918740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918740(C;C)
Make rs121918740(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166012128
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918740
ebirs121918740
HLIrs121918740
Exacrs121918740
Varsomers121918740
Maprs121918740
PheGenIrs121918740
hapmaprs121918740
1000 genomesrs121918740
hgdprs121918740
ensemblrs121918740
gopubmedrs121918740
geneviewrs121918740
scholarrs121918740
googlers121918740
pharmgkbrs121918740
gwascentralrs121918740
openSNPrs121918740
23andMers121918740
23andMe allrs121918740
SNP Nexus

SNPshotrs121918740
SNPdbers121918740
MSV3drs121918740
GWAS Ctlgrs121918740
Max Magnitude0
ClinVar
Risk rs121918740(C;C)
Alt rs121918740(C;C)
Reference rs121918740(T;T)
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.166868638A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059502.2,