rs475991

This variant is located in the ADGRF5 gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 1.42
p 2.0e-185
N 5,349
Large GWAS
European

cathepsin Z measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele G
OR 1.51
p 3.0e-19
N 199
Small GWAS
European

About ADGRF5

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; energy reserve metabolic process; and fat cell differentiation. Predicted to act upstream of or within several processes, including glomerular filtration; negative regulation of macrophage activation; and pharyngeal arch artery morphogenesis. Located in cell surface and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2025]

View all ADGRF5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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