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rs121917930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917930(C;C)
Make rs121917930(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166013839
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121917930
ebirs121917930
HLIrs121917930
Exacrs121917930
Varsomers121917930
Maprs121917930
PheGenIrs121917930
hapmaprs121917930
1000 genomesrs121917930
hgdprs121917930
ensemblrs121917930
gopubmedrs121917930
geneviewrs121917930
scholarrs121917930
googlers121917930
pharmgkbrs121917930
gwascentralrs121917930
openSNPrs121917930
23andMers121917930
23andMe allrs121917930
SNP Nexus

SNPshotrs121917930
SNPdbers121917930
MSV3drs121917930
GWAS Ctlgrs121917930
Max Magnitude0
OMIM182389
Desc
Variant0006
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121917930(C;C)
Alt rs121917930(C;C)
Reference rs121917930(T;T)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1
Reversed 1
HGVS NC_000002.11:g.166870349A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013747.18, RCV000059402.1,


[PMID 17561957] Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.