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rs121918627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918627(C;C)
Make rs121918627(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166002473
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918627
ebirs121918627
HLIrs121918627
Exacrs121918627
Varsomers121918627
Maprs121918627
PheGenIrs121918627
hapmaprs121918627
1000 genomesrs121918627
hgdprs121918627
ensemblrs121918627
gopubmedrs121918627
geneviewrs121918627
scholarrs121918627
googlers121918627
pharmgkbrs121918627
gwascentralrs121918627
openSNPrs121918627
23andMers121918627
23andMe allrs121918627
SNP Nexus

SNPshotrs121918627
SNPdbers121918627
MSV3drs121918627
GWAS Ctlgrs121918627
Max Magnitude0
OMIM182389
Desc
Variant0011
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121918627(C;C)
Alt rs121918627(C;C)
Reference rs121918627(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.166858983A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013752.24, RCV000059508.1,


[PMID 11524484] Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.