rs2393986
This variant is located in the REEP3 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
omega-3 polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 7.0e-20
N 128,922
Large GWAS
European
non-alcoholic fatty liver disease
Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele A
OR 0.03
p 2.0e-11
N 122,644
Large GWAS
European
cholesteryl ester measurement, blood VLDL cholesterol amount
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 4.0e-11
N 115,082
Large GWAS
European
docosahexaenoic acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 6.0e-19
N 128,922
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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