rs2206734

This variant is located in the CDKAL1 gene.

▶

GWAS Catalog Trait Associations (6)

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

body mass index

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 T
OR 0.03
p 5.0e-54
N 928,679
Large GWAS
multi-ancestry
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele T
OR 0.02
p 2.0e-21
N 1,122,049
Large GWAS
European
Okada Y et al. “Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.” Nature Genetics 44(3):302-6 (2012)
Allele T
OR 0.04
p 1.0e-11
N 26,620
Large GWAS
East Asian

body weight

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 T
OR 0.01
p 5.0e-38
N 928,679
Large 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 T
OR 0.19
p 4.0e-11
N 1,164,961
Meta-analysisLarge GWAS
European

type 2 diabetes mellitus

Cho SB et al. “Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus.” Diabetes & Metabolism Journal 45(2):231-240 (2021)
Allele A
OR 1.25
p 2.0e-10
N 14,026
Large GWAS
East Asian

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 T
OR 0.13
p 2.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European

hypertension

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 T
OR 5.86
p 5.0e-9
N 1,317,884
Meta-analysisLarge GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
AdipoQ polymorphisms are associated with type 2 diabetes mellitus: a meta‐analysis study
AssociationN=975Haiyan Chu et al.(2013)· Diabetes/Metabolism Research and Reviews

A case-control study of 443 T2D cases and 532 controls from a Russian population (HAPIEE cohort) investigating four polymorphisms as predictors of type 2 diabetes development over 10 years. rs7903146 in TCF7L2 was significantly associated with T2D risk (TT genotype RR 3.90, 95% CI 2.31-6.61; TC genotype RR 1.86, 95% CI 1.42-2.43; CC protective RR 0.37, 95% CI 0.29-0.49, all p<0.001). No significant associations were found for rs1799883 (FABP2), rs2237892 (KCNQ1), or rs6773957 (ADIPOQ). TCF7L2 rs7903146 retained significance in risk models for both men and women.

Traits studied:Type 2 diabetesType 2 diabetes mellitus
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…