rs12245149
This is a intron variant variant in the REEP3 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids:total lipids ratio
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 A
OR 0.04
p 5.0e-18
N 88,329
Large GWAS
European
atrial fibrillation
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele A
OR 0.05
p 8.0e-17
N 2,339,188
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 9.0e-12
N 1,486,094
Large GWAS
European
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele A
OR 1.05
p 2.0e-12
N 1,030,836
Large GWAS
European
brain attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 6.93
p 4.0e-12
N 33,748
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 8.0e-11
N 219,872
Major Consortium StudyLarge GWAS
European
free cholesterol:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 4.0e-10
N 126,671
Large GWAS
multi-ancestry
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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