rs4632248

This is a intron variant variant in the NLRP12 gene.

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GWAS Catalog Trait Associations (62)

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

monocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 6.0e-176
N 639,696
Large GWAS
multi-ancestry

bcl10-interacting CARD protein measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.75
p 5.0e-168
N 3,301
Large GWAS
European

monocyte percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 5.0e-164
N 394,642
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 0.74
p 4.0e-162
N 3,301
Large GWAS
European

NHP2-like protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.70
p 1.0e-143
N 3,301
Large GWAS
European

high mobility group protein B3 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.70
p 9.0e-142
N 3,301
Large GWAS
European

gamma-aminobutyric acid receptor-associated protein-like 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.70
p 1.0e-140
N 3,301
Large GWAS
European

SH3 domain-binding protein 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.66
p 2.0e-126
N 3,301
Large GWAS
European

DnaJ homolog subfamily B member 14 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.66
p 5.0e-123
N 3,301
Large GWAS
European

neutrophil cytosol factor 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.65
p 1.0e-121
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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