rs1136001
This is a protein-altering variant in the PDXDC1 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
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-127
N 239,268
Large GWAS
European
cholesteryl ester 20:3 measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.17
p 2.0e-54
N 13,814
Large GWAS
European
level of phosphatidylethanolamine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.13
p 6.0e-30
N 5,662
Large GWAS
South Asian
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.02
p 1.0e-22
N 472,730
Large GWAS
East Asian
fatty acid amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 5.0e-20
N 136,016
Large GWAS
multi-ancestry
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.06
p 4.0e-15
N 13,814
Large GWAS
European
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 3.0e-16
N 450,243
Major Consortium StudyLarge GWAS
European
omega-6 polyunsaturated fatty acid measurement
Guan W et al. “Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.” Circulation. Cardiovascular Genetics 7(3):321-331 (2014)
Allele T
OR 0.35
p 1.0e-15
N 8,631
Major Consortium StudyLarge GWAS
European
dihomo-gamma-linolenic acid measurement
Yang C et al. “Genome-wide association studies and fine-mapping identify genomic loci for n-3 and n-6 polyunsaturated fatty acids in Hispanic American and African American cohorts.” Communications Biology 6(1):852 (2023)
Allele T
OR 6.11
p 1.0e-9
N 2,278
Large GWAS
African American or Afro-Caribbean
level of phosphatidylcholine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.08
p 3.0e-17
N 13,814
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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