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rs121918770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918770(A;A)
Make rs121918770(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166054710
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918770
ebirs121918770
HLIrs121918770
Exacrs121918770
Varsomers121918770
Maprs121918770
PheGenIrs121918770
hapmaprs121918770
1000 genomesrs121918770
hgdprs121918770
ensemblrs121918770
gopubmedrs121918770
geneviewrs121918770
scholarrs121918770
googlers121918770
pharmgkbrs121918770
gwascentralrs121918770
openSNPrs121918770
23andMers121918770
23andMe allrs121918770
SNP Nexus

SNPshotrs121918770
SNPdbers121918770
MSV3drs121918770
GWAS Ctlgrs121918770
Max Magnitude0
ClinVar
Risk rs121918770(A,T;A,T)
Alt rs121918770(A,T;A,T)
Reference rs121918770(G;G)
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.166911220C>A; NC_000002.11:g.166911220C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000180856.1, RCV000059538.1,