rs12245367
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.
cholelithiasis
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 8.0e-18
N 665,111
Large GWAS
multi-ancestry
polyunsaturated fatty acids to total fatty acids percentage
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-15
N 110,346
Large GWAS
European
level of N-myc-interactor in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 3.0e-14
N 47,745
Large GWAS
European
fatty acid amount
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-11
N 110,346
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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