rs12247907
This variant is located in the REEP3 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol to total lipids in large HDL percentage
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-23
N 450,015
Large GWAS
multi-ancestry
VLDL particle size
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.04
p 9.0e-22
N 136,016
Large GWAS
multi-ancestry
total lipids in large VLDL
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 1.0e-15
N 136,016
Large GWAS
multi-ancestry
free cholesterol in HDL 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 0.01
p 4.0e-15
N 450,015
Large GWAS
multi-ancestry
triglycerides in very large VLDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 4.0e-14
N 136,016
Large GWAS
multi-ancestry
blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 2.0e-12
N 136,016
Large GWAS
multi-ancestry
total lipids in very large VLDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 6.0e-12
N 136,016
Large GWAS
multi-ancestry
glycoprotein measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 2.0e-11
N 128,809
Large GWAS
multi-ancestry
phospholipids in VLDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.02
p 3.0e-10
N 136,016
Large GWAS
multi-ancestry
social deprivation, triglyceride measurement
Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele C
OR —
β 0.005
p 1.0e-8
N 89,939
Large GWAS
European
About REEP3
Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Predicted to be located in endoplasmic reticulum; membrane; and microtubule. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Jul 2025]
View all REEP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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