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rs121917990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917990(A;G)
Make rs121917990(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166043836
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917990
ebirs121917990
HLIrs121917990
Exacrs121917990
Varsomers121917990
Maprs121917990
PheGenIrs121917990
hapmaprs121917990
1000 genomesrs121917990
hgdprs121917990
ensemblrs121917990
gopubmedrs121917990
geneviewrs121917990
scholarrs121917990
googlers121917990
pharmgkbrs121917990
gwascentralrs121917990
openSNPrs121917990
23andMers121917990
23andMe allrs121917990
SNP Nexus

SNPshotrs121917990
SNPdbers121917990
MSV3drs121917990
GWAS Ctlgrs121917990
Max Magnitude0
ClinVar
Risk rs121917990(G;G)
Alt rs121917990(G;G)
Reference rs121917990(A;A)
Significance Pathogenic
Disease Generalized epilepsy Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166900346T>C
CLNSRC UniProtKB (variants)
CLNACC RCV000059384.1, RCV000180909.1,