rs10440833
This is a intron variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele A
OR 0.13
p 5.0e-215
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
Suzuki K et al. “Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.” Nature Genetics 51(3):379-386 (2019)
Allele A
OR 1.19
p 2.0e-85
N 191,764
Large GWAS
East Asian
Loh M et al. “Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.” Communications Biology 5(1):329 (2022)
Allele A
OR 0.11
p 3.0e-11
N 50,533
Large GWAS
South Asian
Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nature Genetics 42(7):579-89 (2010)
Allele A
OR 1.25
p 2.0e-22
N 47,117
Large GWAS
European
blood glucose amount
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.06
p 4.0e-76
N 153,950
Large GWAS
East Asian
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.04
p 6.0e-43
N 288,127
Large GWAS
East Asian
HbA1c measurement
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.07
p 8.0e-56
N 288,127
Large GWAS
East Asian
birth weight
Plotnikov D et al. “Association between birth weight and refractive error in adulthood: a Mendelian randomisation study.” The British Journal of Ophthalmology 104(2):214-219 (2020)
Allele A
OR 0.04
p 3.0e-25
N 188,039
Large GWAS
European
level of pancreatic prohormone in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 5.0e-20
N 47,745
Large GWAS
European
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 2.0e-18
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
systolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.22
p 3.0e-16
N 1,164,961
Meta-analysisLarge GWAS
European
body weight
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 0.03
p 6.0e-14
N 288,216
Major Consortium StudyLarge GWAS
European
blood urea nitrogen amount
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 7.0e-14
N 599,920
Major Consortium StudyLarge GWAS
multi-ancestry
pulse pressure measurement
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.13
p 2.0e-11
N 1,164,961
Meta-analysisLarge 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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