rs2230488

This variant is located in the RPS6KA3 gene.

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GWAS Catalog Trait Associations (2)

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

low density lipoprotein cholesterol measurement

Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)

Allele T

OR 0.01

p 3.0e-16

N 749,391

Meta-analysisLarge GWAS

multi-ancestry

total cholesterol measurement

Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)

Allele T

OR 0.01

p 9.0e-12

N 749,391

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

not specified; Intellectual disability, X-linked 19;Coffin-Lowry syndrome; Coffin-Lowry syndrome; Intellectual disability, X-linked 19; Inborn genetic diseases; not provided

View on ClinVar →

About RPS6KA3

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]