rs62143206

This variant is located in the NLRP12 gene.

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GWAS Catalog Trait Associations (66)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

monocyte measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.37
p —
N 39,650
Large GWAS
European

neutrophil measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.29
p 1.0e-250
N 39,004
Large GWAS
European

annexin A2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.87
p 7.0e-244
N 3,301
Large GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.08
p 3.0e-183
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.08
p 5.0e-80
N 170,494
Large GWAS
European

small ubiquitin-related modifier 3 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.77
p 7.0e-180
N 3,301
Large GWAS
European

sumo-conjugating enzyme UBC9 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.76
p 8.0e-174
N 3,301
Large GWAS
European

retinoid-binding protein 7 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.75
p 3.0e-171
N 3,301
Large GWAS
European

40s ribosomal protein S7 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.75
p 1.0e-170
N 3,301
Large GWAS
European

monocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.07
p 2.0e-162
N 408,112
Large GWAS
European

pulmonary surfactant-associated protein d measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.71
p 3.0e-150
N 3,301
Large GWAS
European

About NLRP12

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

View all NLRP12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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