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rs121918734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918734(C;C)
Make rs121918734(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166058681
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918734
ebirs121918734
HLIrs121918734
Exacrs121918734
Varsomers121918734
Maprs121918734
PheGenIrs121918734
hapmaprs121918734
1000 genomesrs121918734
hgdprs121918734
ensemblrs121918734
gopubmedrs121918734
geneviewrs121918734
scholarrs121918734
googlers121918734
pharmgkbrs121918734
gwascentralrs121918734
openSNPrs121918734
23andMers121918734
23andMe allrs121918734
SNP Nexus

SNPshotrs121918734
SNPdbers121918734
MSV3drs121918734
GWAS Ctlgrs121918734
Max Magnitude0
ClinVar
Risk rs121918734(C;C)
Alt rs121918734(C;C)
Reference rs121918734(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.166915191A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059474.2,