rs9348441
This is a intron variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 0.12
p 5.0e-85
N 85,856
Large GWAS
East Asian
diabetes mellitus, Drugs used in diabetes use 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 T
OR 0.09
p 1.0e-34
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
diabetic eye disease
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 0.10
p 4.0e-27
N 609,979
Major Consortium StudyLarge GWAS
multi-ancestry
diabetic retinopathy
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 0.09
p 3.0e-26
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry
glucose measurement
Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele A
OR —
β 0.018
p 4.0e-20
N 200,622
Large GWAS
European
glycine 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 5.0e-17
N 450,015
Large GWAS
multi-ancestry
type 2 diabetes nephropathy
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 0.08
p 4.0e-16
N 439,106
Major Consortium StudyLarge GWAS
European
hematocrit
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 1.0e-14
N 407,852
Major Consortium StudyLarge GWAS
European
gestational diabetes
Pervjakova N et al. “Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.” Human Molecular Genetics 31(19):3377-3391 (2022)
Allele A
OR 1.13
p 2.0e-14
N 358,736
Large GWAS
multi-ancestry
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 8.0e-13
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
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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