rs17265703

This is a intron variant variant in the CSTA gene.

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GWAS Catalog Trait Associations (2)

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

acne

Mitchell BL et al. “Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.” Nature Communications 13(1):702 (2022)
Allele G
OR 1.13
p 2.0e-13
N 615,396
Meta-analysisLarge GWAS
European

phosphorus measurement

Kestenbaum B et al. “Common genetic variants associate with serum phosphorus concentration.” Journal of the American Society of Nephrology : Jasn 21(7):1223-32 (2010)
Allele G
OR —
β 0.040
p 4.0e-9
N 16,264
Large GWAS
European

About CSTA

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]

View all CSTA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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