rs17215231

This is a regulatory region variant variant in the RPS18 gene.

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GWAS Catalog Trait Associations (2)

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

monocyte measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele T

OR 0.11

p 3.0e-15

N 39,586

Large GWAS

European

BRCA1 mutation carier status, breast carcinoma, triple-negative breast cancer

Zhang H et al. “Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.” Nature Genetics 52(6):572-581 (2020)

Allele C

OR 1.18

p 9.0e-13

N 118,987

Large GWAS

European

About RPS18

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

rs17215231

GWAS Catalog Trait Associations (2)

monocyte measurement

BRCA1 mutation carier status, breast carcinoma, triple-negative breast cancer

About RPS18

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