rs9368219
This is a intron variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diabetes mellitus biomarker
Deshmukh HA et al. “Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity.” The Journal of Clinical Endocrinology and Metabolism 106(1):80-90 (2021)
Allele T
OR 5.92
p 3.0e-9
N 3,017
Large GWAS
European
age of onset of type 2 diabetes mellitus
Srinivasan S et al. “Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.” Diabetes Care 46(8):1515-1523 (2023)
Allele T
OR —
β 0.050
p 2.0e-8
N 34,001
Large GWAS
multi-ancestry
stroke, type 2 diabetes mellitus, coronary artery disease
Zhao C et al. “Genome-wide association study of cardiometabolic multimorbidity in the UK Biobank.” Clinical Genetics 106(1):72-81 (2024)
Allele T
OR 0.09
p 5.0e-8
N 367,147
Major Consortium StudyLarge 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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