rs10754558
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs10754558(C;C) |
| Make rs10754558(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247448734 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10754558 |
| dbSNP (classic) | rs10754558 |
| ClinGen | rs10754558 |
| ebi | rs10754558 |
| HLI | rs10754558 |
| Exac | rs10754558 |
| Gnomad | rs10754558 |
| Varsome | rs10754558 |
| LitVar | rs10754558 |
| Map | rs10754558 |
| PheGenI | rs10754558 |
| Biobank | rs10754558 |
| 1000 genomes | rs10754558 |
| hgdp | rs10754558 |
| ensembl | rs10754558 |
| geneview | rs10754558 |
| scholar | rs10754558 |
| rs10754558 | |
| pharmgkb | rs10754558 |
| gwascentral | rs10754558 |
| openSNP | rs10754558 |
| 23andMe | rs10754558 |
| SNPshot | rs10754558 |
| SNPdbe | rs10754558 |
| MSV3d | rs10754558 |
| GWAS Ctlg | rs10754558 |
| GMAF | 0.3558 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20502346] A 3'UTR SNP in NLRP3 Gene is Associated With Susceptibility to HIV-1 Infection
[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease
[PMID 16642435
] Cis- and trans-acting gene regulation is associated with osteoarthritis.
[PMID 18576390] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
[PMID 19767079] Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma.
[PMID 20370570] Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil.
[PMID 22227487] Polymorphisms in inflammasome' genes and susceptibility to HIV-1 infection.
[PMID 24901306] The NOD-like receptor signalling pathway in Helicobacter pylori infection and related gastric cancer: a case-control study and gene expression analyses
[PMID 26689701] A Polymorphism Within the 3'UTR of NLRP3 is Associated with Susceptibility for Ischemic Stroke in Chinese Population.
| ClinVar | |
|---|---|
| Risk | rs10754558(C;C) rs10754558(T;T) |
| Alt | rs10754558(C;C) rs10754558(T;T) |
| Reference | Rs10754558(G;G) |
| Significance | Non-pathogenic |
| Disease | Chronic infantile neurological Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247612036G>C |
| CLNSRC | |
| CLNACC | RCV000284662.1, RCV000339908.1, RCV000379007.1, |
[PMID 29732382] Common Variation in NLRP3 Is Associated With Early Death and Elevated Inflammasome Biomarkers Among Advanced HIV/TB Co-infected Patients in Botswana.
[PMID 29888470] Genetic association between the NLRP3 gene and acne vulgaris in a Chinese population.
[PMID 31448710] Frequency of Inflammasome Nlrp1/Nlrp3 Gene Receptor Polimorphisms And The Interleukins IL-1ß/IL-18 Gene Polymorphisms And Their Association With Severity Score In Sickle Cell Disease Patients.
[PMID 32689633] Combined polymorphisms in genes encoding the inflammasome components NLRP3 and CARD8 confer risk of ischemic stroke in men.
