rs6717858

This variant is located in the COBLL1 gene.

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GWAS Catalog Trait Associations (20)

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

triglycerides in large LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-29
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.03
p 3.0e-11
N 88,329
Large GWAS
European

total lipids in medium VLDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 6.0e-23
N 450,015
Large GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.062
p 1.0e-16
N 94,302
Large GWAS
European

concentration of medium VLDL particles

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-15
N 450,015
Large GWAS
multi-ancestry

phospholipids in small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-14
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 5.0e-14
N 450,015
Large GWAS
multi-ancestry

phospholipids in medium VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-13
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndrome
FunctionalDreja T. et al.(2010)· Diabetologia

This functional study used New Zealand obese mice fed high-fat (HF) or carbohydrate-free high-fat (CHF) diets to identify candidate genes and pathways involved in diet-induced type 2 diabetes. Laser capture microdissection of pancreatic islets revealed 2,109 differentially expressed genes; 39 of these correlated with human genome-wide association studies (DGI and WTCCC), including validated hits such as IGF2BP2 and TSPAN8. The most significant finding was upregulation of oxidative phosphorylation genes in response to HF diet, implicating glucose-induced oxidative stress in beta cell failure.

Traits studied:Beta cell dysfunctionGlucose intoleranceHyperglycemiaMetabolic syndromeObesityType 2 diabetes
PubMedDOIMetascience Observatory

About COBLL1

Enables cadherin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

View all COBLL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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