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rs121917918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917918(A;A)
Make rs121917918(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166058651
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917918
ebirs121917918
HLIrs121917918
Exacrs121917918
Varsomers121917918
Maprs121917918
PheGenIrs121917918
hapmaprs121917918
1000 genomesrs121917918
hgdprs121917918
ensemblrs121917918
gopubmedrs121917918
geneviewrs121917918
scholarrs121917918
googlers121917918
pharmgkbrs121917918
gwascentralrs121917918
openSNPrs121917918
23andMers121917918
23andMe allrs121917918
SNP Nexus

SNPshotrs121917918
SNPdbers121917918
MSV3drs121917918
GWAS Ctlgrs121917918
Max Magnitude0
ClinVar
Risk rs121917918(A;A)
Alt rs121917918(A;A)
Reference rs121917918(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166915161C>T
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000059400.4, RCV000150095.3, RCV000188829.2,