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rs121918785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918785(A;A)
Make rs121918785(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166039427
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918785
ebirs121918785
HLIrs121918785
Exacrs121918785
Varsomers121918785
Maprs121918785
PheGenIrs121918785
hapmaprs121918785
1000 genomesrs121918785
hgdprs121918785
ensemblrs121918785
gopubmedrs121918785
geneviewrs121918785
scholarrs121918785
googlers121918785
pharmgkbrs121918785
gwascentralrs121918785
openSNPrs121918785
23andMers121918785
23andMe allrs121918785
SNP Nexus

SNPshotrs121918785
SNPdbers121918785
MSV3drs121918785
GWAS Ctlgrs121918785
Max Magnitude0
ClinVar
Risk rs121918785(A;A)
Alt rs121918785(A;A)
Reference rs121918785(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.166895937C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059469.2,