rs12328675

This is a downstream gene variant variant in the COBLL1 gene.

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GWAS Catalog Trait Associations (6)

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

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.04
p 3.0e-44
N 379,501
Meta-analysisLarge GWAS
European

triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 4.0e-10
N 136,016
Large GWAS
multi-ancestry

body mass index

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.02
p 8.0e-10
N 434,794
Meta-analysisLarge GWAS
European

high density lipoprotein cholesterol measurement

Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele C
OR 0.01
p 6.0e-10
N 133,824
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele C
OR 0.68
p 3.0e-10
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 C
OR —
β 0.046
p 2.0e-16
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele C
OR —
β 0.045
p 2.0e-15
N 94,595
Large GWAS
European

triglyceride measurement

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 0.049
p 3.0e-15
N 94,674
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
AssociationN=76,071Albrechtsen A. et al.(2013)· Diabetologia

Three-stage exome sequencing and replication study identified three amino-acid polymorphisms associated with metabolic traits: CD300LG R82C associated with fasting HDL-cholesterol (p=7.2×10⁻⁸), and COBLL1 N939D (rs7607980, p=1.2×10⁻¹¹) and MACF1 M2290V (rs2296172, p=8.2×10⁻¹⁰) both associated with type 2 diabetes. The study involved exome sequencing of 1,974 Danish individuals with replication in 15,989 Danes and 63,896 Europeans.

Traits studied:BMIFasting glucoseHDL-cholesterolHypertensionObesityTriacylglycerolType 2 diabetesWaist circumference
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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