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rs121918623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918623(C;T)
Make rs121918623(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166038098
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918623
ebirs121918623
HLIrs121918623
Exacrs121918623
Varsomers121918623
Maprs121918623
PheGenIrs121918623
hapmaprs121918623
1000 genomesrs121918623
hgdprs121918623
ensemblrs121918623
gopubmedrs121918623
geneviewrs121918623
scholarrs121918623
googlers121918623
pharmgkbrs121918623
gwascentralrs121918623
openSNPrs121918623
23andMers121918623
23andMe allrs121918623
SNP Nexus

SNPshotrs121918623
SNPdbers121918623
MSV3drs121918623
GWAS Ctlgrs121918623
Max Magnitude0
OMIM182389
Desc
Variant0002
Relatedalso
OMIM604233
Desc
Variant
Relatedalso
OMIM607208
Desc
Variant
Relatedalso
ClinVar
Risk rs121918623(A,T;A,T)
Alt rs121918623(A,T;A,T)
Reference rs121918623(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166894608G>A; NC_000002.11:g.166894608G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013743.24, RCV000059471.1, RCV000059470.1,


[PMID 20522430] Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.


[PMID 10742094] Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.