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rs121918736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918736(C;T)
Make rs121918736(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166037907
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918736
ebirs121918736
HLIrs121918736
Exacrs121918736
Varsomers121918736
Maprs121918736
PheGenIrs121918736
hapmaprs121918736
1000 genomesrs121918736
hgdprs121918736
ensemblrs121918736
gopubmedrs121918736
geneviewrs121918736
scholarrs121918736
googlers121918736
pharmgkbrs121918736
gwascentralrs121918736
openSNPrs121918736
23andMers121918736
23andMe allrs121918736
SNP Nexus

SNPshotrs121918736
SNPdbers121918736
MSV3drs121918736
GWAS Ctlgrs121918736
Max Magnitude0
ClinVar
Risk rs121918736(T;T)
Alt rs121918736(T;T)
Reference rs121918736(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.166894417G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059477.2,