rs191448232

This is a splice region variant variant in the C1RL gene.

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GWAS Catalog Trait Associations (1)

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

complement C1r subcomponent-like protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele C

OR 2.23

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 C

OR —

β 1.910

p 6.0e-61

N 3,301

Large GWAS

European

About C1RL

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

View all C1RL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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