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

rs121908146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908146(C;T)
Make rs121908146(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424765
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908146
ebirs121908146
HLIrs121908146
Exacrs121908146
Varsomers121908146
Maprs121908146
PheGenIrs121908146
hapmaprs121908146
1000 genomesrs121908146
hgdprs121908146
ensemblrs121908146
gopubmedrs121908146
geneviewrs121908146
scholarrs121908146
googlers121908146
pharmgkbrs121908146
gwascentralrs121908146
openSNPrs121908146
23andMers121908146
23andMe allrs121908146
SNP Nexus

SNPshotrs121908146
SNPdbers121908146
MSV3drs121908146
GWAS Ctlgrs121908146
Max Magnitude0
OMIM606416
Desc
Variant0001
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908146(T;T)
Alt rs121908146(T;T)
Reference rs121908146(C;C)
Significance Pathogenic
Disease Familial cold urticaria not provided
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria not provided
Reversed 0
HGVS NC_000001.10:g.247588067C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004618.4, RCV000214900.1,


[PMID 11687797OA-icon.png] Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.