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rs121917964

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917964(A;G)
Make rs121917964(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position166073371
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917964
dbSNP (old)rs121917964
ClinGenrs121917964
ebirs121917964
HLIrs121917964
Exacrs121917964
Gnomadrs121917964
Varsomers121917964
Maprs121917964
PheGenIrs121917964
Biobankrs121917964
1000 genomesrs121917964
hgdprs121917964
ensemblrs121917964
gopubmedrs121917964
geneviewrs121917964
scholarrs121917964
googlers121917964
pharmgkbrs121917964
gwascentralrs121917964
openSNPrs121917964
23andMers121917964
23andMe allrs121917964
SNPshotrs121917964
SNPdbers121917964
MSV3drs121917964
GWAS Ctlgrs121917964
Max Magnitude0
ClinVar
Risk rs121917964(G;G)
Alt rs121917964(G;G)
Reference Rs121917964(A;A)
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.166929881T>C
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059392.1, RCV000255485.1,