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rs121918631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918631(C;C)
Make rs121918631(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166056450
GeneSCN1A
is asnp
is mentioned by
dbSNPrs121918631
ebirs121918631
HLIrs121918631
Exacrs121918631
Varsomers121918631
Maprs121918631
PheGenIrs121918631
hapmaprs121918631
1000 genomesrs121918631
hgdprs121918631
ensemblrs121918631
gopubmedrs121918631
geneviewrs121918631
scholarrs121918631
googlers121918631
pharmgkbrs121918631
gwascentralrs121918631
openSNPrs121918631
23andMers121918631
23andMe allrs121918631
SNP Nexus

SNPshotrs121918631
SNPdbers121918631
MSV3drs121918631
GWAS Ctlgrs121918631
Max Magnitude0
OMIM182389
Desc
Variant0015
Relatedalso
OMIM604403
Desc
Variant
Relatedalso
ClinVar
Risk rs121918631(A,C;A,C)
Alt rs121918631(A,C;A,C)
Reference rs121918631(T;T)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166912960A>G; NC_000002.11:g.166912960A>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013758.24, RCV000188834.1,


[PMID 16326807OA-icon.png] Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.