rs34436714

This variant is located in the NLRP12 gene.

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GWAS Catalog Trait Associations (30)

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

interleukin-1 beta measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.27
p 9.0e-289
N 47,745
Large GWAS
European

macrophage-capping protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.16
p 7.0e-200
N 47,745
Large GWAS
European

protein S100-A11 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.21
p 1.0e-192
N 47,745
Large GWAS
European

coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.71
p 1.0e-146
N 3,301
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 7.0e-56
N 47,745
Large GWAS
European

neutrophil cytosol factor 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.15
p 4.0e-103
N 47,745
Large GWAS
European

protein s100-a9 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.59
p 1.0e-95
N 3,301
Large GWAS
European

poly [ADP-ribose] polymerase 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.15
p 1.0e-91
N 47,745
Large GWAS
European

grancalcin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.53
p 1.0e-75
N 3,301
Large GWAS
European

copine-1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.50
p 3.0e-68
N 3,301
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
12 submitters3 publications

not specified; Familial cold autoinflammatory syndrome; Familial cold autoinflammatory syndrome 2; not provided; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

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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