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rs121917982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917982(C;C)
Make rs121917982(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166073387
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917982
dbSNP (old)rs121917982
ClinGenrs121917982
ebirs121917982
HLIrs121917982
Exacrs121917982
Gnomadrs121917982
Varsomers121917982
LitVarrs121917982
Maprs121917982
PheGenIrs121917982
Biobankrs121917982
1000 genomesrs121917982
hgdprs121917982
ensemblrs121917982
gopubmedrs121917982
geneviewrs121917982
scholarrs121917982
googlers121917982
pharmgkbrs121917982
gwascentralrs121917982
openSNPrs121917982
23andMers121917982
23andMe allrs121917982
SNPshotrs121917982
SNPdbers121917982
MSV3drs121917982
GWAS Ctlgrs121917982
Max Magnitude0
ClinVar
Risk rs121917982(A;A) rs121917982(C;C)
Alt rs121917982(A;A) rs121917982(C;C)
Reference Rs121917982(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166929897C>G; NC_000002.11:g.166929897C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059389.1, RCV000419539.1,