rs4883263

This variant is located in the CD163 gene.

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GWAS Catalog Trait Associations (4)

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

level of thioredoxin reductase 1, cytoplasmic in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.63
p 2.0e-26
N 466
Small GWAS
African American or Afro-Caribbean

L lactate dehydrogenase measurement

Kristjansson RP et al. “Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.” Nature Communications 7:10572 (2016)
Allele T
OR 0.11
p 2.0e-19
N 98,585
Large GWAS
European

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele T
OR 0.01
p 1.0e-8
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.03
p 2.0e-15
N 293,593
Large GWAS
African unspecified
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ClinVar annotation

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

About CD163

The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

View all CD163 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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