rs9348441

This is a intron variant variant in the CDKAL1 gene.

GWAS Catalog Trait Associations (14)

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

glucose tolerance test

Allele A
OR 0.12
p 5.0e-85
N 85,856
Large GWAS
East Asian

diabetes mellitus, Drugs used in diabetes use measurement

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 1.0e-34
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

diabetic eye disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.10
p 4.0e-27
N 609,979
Major Consortium StudyLarge GWAS
multi-ancestry

diabetic retinopathy

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 3.0e-26
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry

glucose measurement

Chen J et al. The trans-ancestral genomic architecture of glycemic traits. Nature Genetics 53(6):840-860 (2021)
Allele A
OR
β 0.018
p 4.0e-20
N 200,622
Large GWAS
European

glycine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-17
N 450,015
Large GWAS
multi-ancestry

type 2 diabetes nephropathy

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.08
p 4.0e-16
N 439,106
Major Consortium StudyLarge GWAS
European

hematocrit

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 1.0e-14
N 407,852
Major Consortium StudyLarge GWAS
European

gestational diabetes

Allele A
OR 1.13
p 2.0e-14
N 358,736
Large GWAS
multi-ancestry

diabetes mellitus, family history

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.06
p 8.0e-13
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

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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