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rs121917927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917927(A;A)
Make rs121917927(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166046969
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917927
ebirs121917927
HLIrs121917927
Exacrs121917927
Varsomers121917927
Maprs121917927
PheGenIrs121917927
hapmaprs121917927
1000 genomesrs121917927
hgdprs121917927
ensemblrs121917927
gopubmedrs121917927
geneviewrs121917927
scholarrs121917927
googlers121917927
pharmgkbrs121917927
gwascentralrs121917927
openSNPrs121917927
23andMers121917927
23andMe allrs121917927
SNP Nexus

SNPshotrs121917927
SNPdbers121917927
MSV3drs121917927
GWAS Ctlgrs121917927
Max Magnitude0
ClinVar
Risk rs121917927(A;A)
Alt rs121917927(A;A)
Reference rs121917927(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.166903479C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059378.3, RCV000188863.1,