rs117692263

This is a intron variant variant in the CD163 gene.

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GWAS Catalog Trait Associations (6)

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

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 0.14
p 5.0e-48
N 47,745
Large GWAS
European

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 C
OR —
β 0.090
p 6.0e-28
N 98,585
Large GWAS
European

creatine kinase 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 C
OR —
β 0.083
p 1.0e-17
N 63,159
Large GWAS
European

kallikrein-7 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 0.20
p 5.0e-17
N 10,708
Large GWAS
European

low density lipoprotein cholesterol measurement

Klimentidis YC et al. “Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.” Diabetes 69(10):2194-2205 (2020)
Allele T
OR 0.02
p 2.0e-8
N 431,167
Major Consortium StudyLarge GWAS
European

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.02
p 5.0e-8
N 1,320,016
Large GWAS
European

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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