rs17145738

This is a downstream gene variant variant in the TBL2 gene.

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GWAS Catalog Trait Associations (14)

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

cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.10

p 1.0e-60

N 136,016

Large GWAS

multi-ancestry

cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.10

p 7.0e-58

N 136,016

Large GWAS

multi-ancestry

triglycerides:total lipids ratio, intermediate density lipoprotein measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.08

p 1.0e-35

N 136,016

Large GWAS

multi-ancestry

phospholipids in small HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.08

p 5.0e-35

N 136,016

Large GWAS

multi-ancestry

free cholesterol in small HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.07

p 8.0e-33

N 136,016

Large GWAS

multi-ancestry

triglycerides:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.05

p 1.0e-16

N 136,016

Large GWAS

multi-ancestry

cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.05

p 2.0e-16

N 136,016

Large GWAS

multi-ancestry

plasma plasminogen measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.06

p 2.0e-14

N 47,745

Large GWAS

European

Hypertriglyceridemia

Ram R et al. “A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.” Clinical Genetics 91(3):371-378 (2017)

Allele C

OR 1.82

p 2.0e-13

N 4,086

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)

Allele T

OR —

β 0.041

p 5.0e-13

N 94,595

Large GWAS

European

Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)

Allele T

OR 0.57

p 1.0e-9

N 99,900

Large GWAS

European

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele T

OR —

β 0.035

p 9.0e-10

N 94,674

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke

ReviewGretarsdottir S. et al.(2008)· Annals of Neurology

This review examines 15 years of ischemic stroke susceptibility gene research, organized into three periods: early candidate gene studies (1985-1995) testing variants in hemostasis and homocysteine metabolism genes; expansion period with functional variants discovered from other diseases tested on larger stroke cohorts; and current GWAS-driven large-scale genotyping studies. Key findings include identification of susceptibility loci in CELSR1 (rs6007897, rs4044210 in Japanese populations), PITX2 (rs2200733, rs10033464), and other genes involved in lipid metabolism (APOA5, APOCIII, MLXIPL) and signal transduction (PDE4D, ALOX5AP), with evidence that alleles are often shared across diseases and that careful clinical stratification is critical.

Traits studied:Atrial fibrillationCardioembolic strokeCerebral artery diseaseIschemic strokeLarge-vessel atherosclerotic strokeMyocardial infarctionSmall-vessel occlusion strokeThromboembolismVenous thrombosis

PubMed DOI Metascience Observatory

About TBL2

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

rs17145738

GWAS Catalog Trait Associations (14)

cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount

cholesterol:total lipids ratio, blood VLDL cholesterol amount

triglycerides:total lipids ratio, intermediate density lipoprotein measurement

phospholipids in small HDL measurement

free cholesterol in small HDL measurement

triglycerides:total lipids ratio, low density lipoprotein cholesterol measurement

cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement

plasma plasminogen measurement

Hypertriglyceridemia

high density lipoprotein cholesterol measurement

Research that mentions this SNP (1)

About TBL2

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