rs11753081

This is a intron variant variant in the CDKAL1 gene.

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GWAS Catalog Trait Associations (2)

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

osteoarthritis, knee, body mass index

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)

Allele T

OR —

p 2.0e-11

N 1,202,888

Large GWAS

European

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele T

OR 0.01

p 1.0e-8

N 694,649

Large GWAS

European

About CDKAL1

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

View all CDKAL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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