rs9368222

This variant is located in the CDKAL1 gene.

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GWAS Catalog Trait Associations (32)

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

type 2 diabetes mellitus

Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele A
OR 0.15
p 2.0e-189
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.16
p 2.0e-122
N 667,504
Large GWAS
multi-ancestry
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 A
OR 0.07
p 4.0e-12
N 116,014
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele A
OR 0.92
p 1.0e-8
N 60,975
Large GWAS
Hispanic or Latin American

gestational diabetes

Gu Y et al. “Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.” Nature Communications 16(1):4178 (2025)
Allele A
OR 0.26
p 2.0e-46
N 79,869
Large GWAS
East Asian

diabetes mellitus

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 C
OR 0.09
p 6.0e-38
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 2.0e-30
N 71,221
Large GWAS
East Asian

diabetic neuropathy

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 C
OR 0.07
p 4.0e-23
N 614,793
Major Consortium StudyLarge GWAS
multi-ancestry

cholesteryl esters to total lipids in medium VLDL percentage

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 3.0e-20
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in medium VLDL percentage

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-19
N 450,015
Large GWAS
multi-ancestry

chloride level

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 C
OR 0.03
p 1.0e-18
N 585,501
Major Consortium StudyLarge GWAS
multi-ancestry

total lipids in small VLDL

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 6.0e-18
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in small VLDL percentage

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 8.0e-18
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium
AssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia

Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.

Traits studied:Fasting glucoseFasting insulinType 2 diabetes
PubMedDOIMetascience Observatory

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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