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rs121918757

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918757(C;C)
Make rs121918757(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165991853
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121918757
dbSNP (old)rs121918757
ClinGenrs121918757
ebirs121918757
HLIrs121918757
Exacrs121918757
Gnomadrs121918757
Varsomers121918757
Maprs121918757
PheGenIrs121918757
Biobankrs121918757
1000 genomesrs121918757
hgdprs121918757
ensemblrs121918757
gopubmedrs121918757
geneviewrs121918757
scholarrs121918757
googlers121918757
pharmgkbrs121918757
gwascentralrs121918757
openSNPrs121918757
23andMers121918757
23andMe allrs121918757
SNPshotrs121918757
SNPdbers121918757
MSV3drs121918757
GWAS Ctlgrs121918757
Max Magnitude0
ClinVar
Risk rs121918757(C;C)
Alt rs121918757(C;C)
Reference Rs121918757(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166848363A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059541.1, RCV000435635.1,