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rs121917985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917985(A;A)
Make rs121917985(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166051968
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917985
ebirs121917985
HLIrs121917985
Exacrs121917985
Varsomers121917985
Maprs121917985
PheGenIrs121917985
hapmaprs121917985
1000 genomesrs121917985
hgdprs121917985
ensemblrs121917985
gopubmedrs121917985
geneviewrs121917985
scholarrs121917985
googlers121917985
pharmgkbrs121917985
gwascentralrs121917985
openSNPrs121917985
23andMers121917985
23andMe allrs121917985
SNP Nexus

SNPshotrs121917985
SNPdbers121917985
MSV3drs121917985
GWAS Ctlgrs121917985
Max Magnitude0
ClinVar
Risk rs121917985(A;A)
Alt rs121917985(A;A)
Reference rs121917985(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166908478C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059456.2,