rs7766070
This is a regulatory region variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele A
OR —
p —
N 2,535,601
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 0.10
p 6.0e-127
N 432,648
Major Consortium StudyLarge GWAS
European
Cook JP et al. “Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility.” European Journal of Human Genetics : Ejhg 24(8):1175-80 (2016)
Allele A
OR 1.12
p 2.0e-11
N 71,604
Large GWAS
multi-ancestry
Perry JR et al. “Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.” Plos Genetics 8(5):e1002741 (2012)
Allele A
OR 1.21
p 6.0e-11
N 60,651
Large GWAS
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 0.12
p 5.0e-13
N 50,533
Large GWAS
South Asian
Ghassibe-Sabbagh M et al. “T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.” Scientific Reports 4:7351 (2014)
Allele A
OR 1.38
p 9.0e-9
N 3,286
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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 0.04
p 1.0e-167
N 928,679
Large GWAS
multi-ancestry
HbA1c 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 C
OR 0.08
p 9.0e-152
N 338,848
Major Consortium StudyLarge GWAS
European
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 0.10
p 3.0e-124
N 431,305
Major Consortium StudyLarge GWAS
European
alanine 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 0.04
p 1.0e-79
N 450,015
Large GWAS
multi-ancestry
Drugs used in diabetes use 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 0.15
p 5.0e-75
N 484,639
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.12
p 3.0e-19
N 305,913
Major Consortium StudyLarge GWAS
European
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 0.09
p 2.0e-42
N 434,644
Major Consortium StudyLarge GWAS
European
glucose 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 0.03
p 8.0e-35
N 448,252
Large GWAS
multi-ancestry
Lagou V et al. “GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.” Nature Genetics 55(9):1448-1461 (2023)
Allele A
OR 0.00
p 5.0e-18
N 475,416
Large GWAS
multi-ancestry
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 0.02
p 9.0e-24
N 394,642
Large GWAS
European
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 0.04
p 6.0e-13
N 106,425
Major Consortium StudyLarge GWAS
multi-ancestry
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.07
p 3.0e-11
N 38,000
Large GWAS
South Asian
body weight
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 0.03
p 6.0e-31
N 165,419
Large GWAS
East Asian
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 9.0e-17
N 408,112
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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