rs7973752

This is a intron variant variant in the CD163L1 gene.

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GWAS Catalog Trait Associations (1)

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

L lactate dehydrogenase measurement

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele A

OR 0.50

p 2.0e-34

N 1,862

Large GWAS

East Asian

About CD163L1

This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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