Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918626(A;C)
Make rs121918626(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position166012179
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918626
ebirs121918626
HLIrs121918626
Exacrs121918626
Varsomers121918626
Maprs121918626
PheGenIrs121918626
hapmaprs121918626
1000 genomesrs121918626
hgdprs121918626
ensemblrs121918626
gopubmedrs121918626
geneviewrs121918626
scholarrs121918626
googlers121918626
pharmgkbrs121918626
gwascentralrs121918626
openSNPrs121918626
23andMers121918626
23andMe allrs121918626
SNP Nexus

SNPshotrs121918626
SNPdbers121918626
MSV3drs121918626
GWAS Ctlgrs121918626
Max Magnitude0
OMIM182389
Desc
Variant0010
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121918626(C;C)
Alt rs121918626(C;C)
Reference rs121918626(A;A)
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.166868689T>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013751.18, RCV000059501.1,


[PMID 11756608] Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.