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rs121917953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917953(A;T)
Make rs121917953(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166054677
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121917953
ebirs121917953
HLIrs121917953
Exacrs121917953
Varsomers121917953
Maprs121917953
PheGenIrs121917953
hapmaprs121917953
1000 genomesrs121917953
hgdprs121917953
ensemblrs121917953
gopubmedrs121917953
geneviewrs121917953
scholarrs121917953
googlers121917953
pharmgkbrs121917953
gwascentralrs121917953
openSNPrs121917953
23andMers121917953
23andMe allrs121917953
SNP Nexus

SNPshotrs121917953
SNPdbers121917953
MSV3drs121917953
GWAS Ctlgrs121917953
Max Magnitude0
OMIM182389
Desc
Variant0003
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
ClinVar
Risk rs121917953(T;T)
Alt rs121917953(T;T)
Reference rs121917953(A;A)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus
Variation info
Gene 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.166911187T>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013744.23, RCV000059448.1,


[PMID 11254444OA-icon.png] Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.