rs10418046

This variant is located in the NLRP12 gene.

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GWAS Catalog Trait Associations (71)

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

monocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 2.0e-146
N 394,642
Large GWAS
European
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR —
p 1.0e-58
N 234,690
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 G
OR 0.07
p 5.0e-63
N 170,721
Large GWAS
European

sialic acid-binding Ig-like lectin 11 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.62
p 2.0e-110
N 3,301
Large GWAS
European

maspardin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.61
p 2.0e-105
N 3,301
Large GWAS
European

nuclear RNA export factor 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.58
p 3.0e-95
N 3,301
Large GWAS
European

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 G
OR 0.15
p 1.0e-68
N 39,608
Large GWAS
European

activator of 90 kDa heat shock protein ATPase homolog 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.50
p 2.0e-68
N 3,301
Large GWAS
European

adenylosuccinate synthetase isozyme 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.50
p 5.0e-68
N 3,301
Large GWAS
European

ubiquitin-fold modifier-conjugating enzyme 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.50
p 8.0e-67
N 3,301
Large GWAS
European

L-lactate dehydrogenase B chain measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.49
p 2.0e-64
N 3,301
Large GWAS
European

pyridoxal kinase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.48
p 2.0e-62
N 3,301
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
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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