rs7747752

This variant is located in the CDKAL1 gene.

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GWAS Catalog Trait Associations (1)

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

HbA1c measurement

Jihye Ryu et al. “Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study” Human Mutation (2012)
Allele C
OR —
β 0.046
p 1.0e-11
N 4,275
Large GWAS
East Asian
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Research that mentions this SNP (1)

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COX2 and NOS3 gene polymorphisms in women with gestational diabetes
ReviewMaciej Tarnowski et al.(2017)· The Journal of Gene Medicine

This comprehensive review synthesizes literature on gestational diabetes mellitus (GDM), demonstrating its complex multifactorial etiology involving genetic factors (SNPs in GCKR, KCNQ1, MTNR1B, TCF7L2), epigenetic modifications (DNA methylation and microRNA expression), and alterations in microbial composition across multiple body sites. While certain SNP variants are associated with GDM phenotypes globally, genetic predisposition alone does not explain disease development; lifestyle factors can modify epigenetic signatures and microbiota composition to modulate risk. Evidence indicates genes, epigenetic alterations, and microbiota can transfer from mother to offspring with long-term health consequences.

Traits studied:Cardiovascular diseaseFetal macrosomiaGestational diabetes mellitusHyperglycemiaHyperlipidemiaHypoglycemiaImpaired insulin secretionInflammatory conditionsInsulin resistanceMetabolic syndromeObesityPreeclampsiaType 2 diabetes
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.

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