rs138525217

This is a splice region 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.

brain aneurysm

Hong EP et al. “Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.” Journal of Clinical Medicine 8(2) (2019)

Allele T

OR 75.98

p 6.0e-23

N 546

Small 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]

View all CD163L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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