{{Rsnum
|rsid=12150220
|Gene=NLRP1
|Chromosome=17
|position=5582047
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.2314
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=NLRP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 24.3 | 59.5 | 16.2
| HCB | 88.9 | 11.1 | 0.0
| JPT | 92.9 | 7.1 | 0.0
| YRI | 96.8 | 3.2 | 0.0
| ASW | 87.3 | 12.7 | 0.0
| CHB | 88.9 | 11.1 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 64.6 | 31.2 | 4.2
| LWK | 94.4 | 5.6 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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}}

{{omim
|id=606636
|desc=NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1
|rsnum=12150220
}}

{{PMID Auto
|PMID=20152874
|Title=A coding variant in NLRP1is associated with autoimmune Addison;s disease
}}

{{PMID Auto
|PMID=21245836
|Title=The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease
}}

{{omim
|id=606636
|rsnum=12150220
|variant=0001
}}

{{ClinVar
|rsid=12150220
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=5485367
|CHROM=17
|GMAF=0.2308
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x05016800000015051f110101
|GENEINFO=NLRP1:22861
|GENE_NAME=NLRP1
|GENE_ID=22861
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.5485367A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606636.0001
|CLNSIG=255
|CLNCUI=C1847835
|CLNDBN=Vitiligo-associated multiple autoimmune disease susceptibility 1
|Disease=Vitiligo-associated multiple autoimmune disease susceptibility 1
|CLNACC=RCV000004380.2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7686; 0.2314
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1847835:606579
|COMMON=1
}}

{{PMID Auto
|PMID=21149496
|Title=NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.
}}

{{PMID Auto
|PMID=21448414
|Title=Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.
|OA=1
}}

{{PMID Auto
|PMID=22235789
|Title=Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus.
}}

{{PMID Auto
|PMID=22524199
|Title=Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma.
}}

{{GET Evidence
|gene=NLRP1
|aa_change=Leu155His
|aa_change_short=L155H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12150220
|overall_frequency_n=3547
|overall_frequency_d=10758
|overall_frequency=0.329708
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|in_omim=Y
|pph2_score=0.064
|nblosum100=6
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23922971
|Title=Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms
|OA=1
}}

{{PMID Auto
|PMID=23374100
|Title=Polymorphisms in NLRP1 gene and susceptibility to autoimmune thyroid disease.
}}

{{PMID Auto
|PMID=23773036
|Title=Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}