rs1002487

This is a intron variant variant in the RPS6KA1 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 glucose amount

Hebbar P et al. “Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population.” Scientific Reports 10(1):152 (2020)
Allele C
OR 6.55
p 6.0e-11
N 1,353
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

triglyceride measurement

Hebbar P et al. “Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.” Journal of Lipid Research 59(10):1951-1966 (2018)
Allele C
OR 6.52
p 7.0e-11
N 1,353
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

About RPS6KA1

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all RPS6KA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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