rs9350271

This is a intron variant variant in the CDKAL1 gene.

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GWAS Catalog Trait Associations (4)

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

type 2 diabetes mellitus

Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele A
OR 1.21
p 5.0e-183
N 433,540
Large GWAS
East Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 1.19
p 2.0e-93
N 210,865
Large GWAS
East Asian
Walters RG et al. “Genotyping and population characteristics of the China Kadoorie Biobank.” Cell Genomics 3(8):100361 (2023)
Allele A
OR 1.16
p 7.0e-10
N 77,178
Large GWAS
East Asian

promotilin measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.11
p 3.0e-15
N 10,708
Large GWAS
European

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 4.0e-12
N 408,112
Large GWAS
European

diabetes mellitus

Walters RG et al. “Genotyping and population characteristics of the China Kadoorie Biobank.” Cell Genomics 3(8):100361 (2023)
Allele A
OR 1.16
p 4.0e-8
N 77,194
Large GWAS
East Asian

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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