rs35261542
This is a intron variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 0.04
p 4.0e-90
N 415,403
Large GWAS
multi-ancestry
glucose tolerance test
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 0.11
p 1.0e-75
N 84,743
Large GWAS
East Asian
birth weight
Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele C
OR 0.04
p 3.0e-45
N 321,223
Large GWAS
multi-ancestry
Horikoshi M et al. “Genome-wide associations for birth weight and correlations with adult disease.” Nature 538(7624):248-252 (2016)
Allele C
OR 0.04
p 1.0e-28
N 142,558
Large GWAS
multi-ancestry
body mass index
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele A
OR 0.04
p 4.0e-29
N 158,284
Large GWAS
multi-ancestry
glucose 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 6.0e-18
N 450,015
Large GWAS
multi-ancestry
type 2 diabetes mellitus
Bonàs-Guarch S et al. “Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.” Nature Communications 9(1):321 (2018)
Allele A
OR 1.14
p 2.0e-14
N 70,127
Large GWAS
European
Hodgson S et al. “Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.” Plos Medicine 19(5):e1003981 (2022)
Allele A
OR 1.26
p 5.0e-10
N 12,875
Large GWAS
South Asian
alanine measurement
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele C
OR 0.03
p 6.0e-14
N 117,944
Large GWAS
European
glutamine measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 1.0e-10
N 114,751
Large GWAS
European
diastolic blood pressure
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 2.0e-9
N 1,212,859
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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