rs62039480
This is a regulatory region variant variant in the PDXDC1 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
fatty acid amount, linoleic acid measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 7.0e-25
N 136,016
Large GWAS
multi-ancestry
linoleic 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 A
OR —
p 2.0e-13
N 110,346
Large GWAS
European
level of Phosphatidylcholine (16:0_18:2) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele A
OR 0.12
p 7.0e-11
N 7,174
Large GWAS
European
1-linoleoyl-GPE (18:2) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.06
p 4.0e-9
N 14,296
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 A
OR —
p 1.0e-9
N 4,663
Large GWAS
Central Asian, South Asian
level of phosphatidylcholine
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele A
OR 0.23
p 3.0e-22
N 4,492
Large GWAS
European
lysophosphatidylcholine 20:3 measurement
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele A
OR 0.27
p 1.0e-31
N 4,492
Large GWAS
European
About PDXDC1
Enables cadherin binding activity. Predicted to be involved in carboxylic acid metabolic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]
View all PDXDC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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