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rs121917972

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917972(A;A)
Make rs121917972(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166037873
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917972
dbSNP (old)rs121917972
ClinGenrs121917972
ebirs121917972
HLIrs121917972
Exacrs121917972
Gnomadrs121917972
Varsomers121917972
Maprs121917972
PheGenIrs121917972
Biobankrs121917972
1000 genomesrs121917972
hgdprs121917972
ensemblrs121917972
gopubmedrs121917972
geneviewrs121917972
scholarrs121917972
googlers121917972
pharmgkbrs121917972
gwascentralrs121917972
openSNPrs121917972
23andMers121917972
23andMe allrs121917972
SNPshotrs121917972
SNPdbers121917972
MSV3drs121917972
GWAS Ctlgrs121917972
Max Magnitude0
ClinVar
Risk rs121917972(A;A)
Alt rs121917972(A;A)
Reference Rs121917972(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.166894383C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059396.1, RCV000429753.1,