rs12150220
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | slightly increased risk for several autoimmune diseases | |
| (A;T) | slightly increased risk for several autoimmune diseases | |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 5582047 |
| Gene | NLRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12150220 |
| dbSNP (classic) | rs12150220 |
| ClinGen | rs12150220 |
| ebi | rs12150220 |
| HLI | rs12150220 |
| Exac | rs12150220 |
| Gnomad | rs12150220 |
| Varsome | rs12150220 |
| LitVar | rs12150220 |
| Map | rs12150220 |
| PheGenI | rs12150220 |
| Biobank | rs12150220 |
| 1000 genomes | rs12150220 |
| hgdp | rs12150220 |
| ensembl | rs12150220 |
| geneview | rs12150220 |
| scholar | rs12150220 |
| rs12150220 | |
| pharmgkb | rs12150220 |
| gwascentral | rs12150220 |
| openSNP | rs12150220 |
| 23andMe | rs12150220 |
| SNPshot | rs12150220 |
| SNPdbe | rs12150220 |
| MSV3d | rs12150220 |
| GWAS Ctlg | rs12150220 |
| GMAF | 0.2314 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs12150220 is a SNP in the NLRP1 gene, which encodes the NACHT leucine-rich-repeat protein 1. SNPs in this gene may be involved in higher risk for several autoimmune diseases.
In a study investigating large patient cohorts from six different autoimmune diseases, including autoimmune Addison's disease (n=333 patients), type-1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), plus 3273 healthy controls, the rs12150220(A) allele was associated with higher risk for both autoimmune Addison's disease (odds ratio 1.25, CI: 1.06-1.49, p = 0.007) and type-1 diabetes (odds ratio 1.15, CI: 1.04-1.27, p = 0.005).[PMID 18946481]
[PMID 20152874] A coding variant in NLRP1is associated with autoimmune Addison;s disease
[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease
| ClinVar | |
|---|---|
| Risk | Rs12150220(T;T) |
| Alt | Rs12150220(T;T) |
| Reference | Rs12150220(A;A) |
| Significance | Other |
| Disease | Vitiligo-associated multiple autoimmune disease susceptibility 1 |
| Variation | info |
| Gene | NLRP1 |
| CLNDBN | Vitiligo-associated multiple autoimmune disease susceptibility 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.5485367A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004380.3, |
[PMID 21149496] NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.
[PMID 21448414
] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.
[PMID 22235789] Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus.
[PMID 22524199] Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma.
[PMID 23922971] Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms
[PMID 23374100] Polymorphisms in NLRP1 gene and susceptibility to autoimmune thyroid disease.
[PMID 23773036] Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat 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.
