rs10971921

This is a upstream gene variant variant in the DCAF12 gene.

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GWAS Catalog Trait Associations (3)

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

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele A

OR 0.01

p 7.0e-13

N 425,097

Large GWAS

European

colorectal cancer

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.09

p 4.0e-9

N 637,693

Large GWAS

multi-ancestry

platelet component distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.02

p 4.0e-9

N 408,112

Large GWAS

European

About DCAF12

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

View all DCAF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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