rs12975366

This variant is located in the LILRB5 gene.

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GWAS Catalog Trait Associations (69)

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

leukocyte immunoglobulin-like receptor subfamily B member 5 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.15
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 1.160
p —
N 3,301
Large GWAS
European

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele C
OR 1.04
p —
N 3,506
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.09
p 4.0e-12
N 10,708
Large GWAS
European

n-acetylgalactosaminyltransferase 7 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.19
p 5.0e-240
N 47,745
Large GWAS
European

superoxide dismutase [Mn], mitochondrial measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.15
p 3.0e-159
N 47,745
Large GWAS
European

polypeptide N-acetylgalactosaminyltransferase 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 C
OR 0.13
p 3.0e-139
N 47,745
Large GWAS
European

level of folate receptor beta in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 6.0e-126
N 47,745
Large GWAS
European

level of folate receptor gamma in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.08
p 2.0e-79
N 47,745
Large GWAS
European

connective tissue-activating peptide III measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 1.22
p 4.0e-68
N 195
Small GWAS
European

gamma-glutamyl hydrolase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.08
p 7.0e-59
N 47,745
Large GWAS
European

aspartate aminotransferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.04
p 4.0e-56
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 2.0e-33
N 493,058
Large GWAS
multi-ancestry
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 0.02
p 4.0e-37
N 394,642
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About LILRB5

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all LILRB5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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