rs7200543
This is a synonymous variant in the PDXDC1 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 G
OR —
p 2.0e-140
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 G
OR 0.17
p 3.0e-54
N 13,814
Large GWAS
European
1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) 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 0.17
p 8.0e-54
N 14,296
Large GWAS
European
body height
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele G
OR 0.02
p 4.0e-21
N 153,950
Large GWAS
East Asian
phosphatidylcholine diacyl C38:3 measurement
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele A
OR 0.04
p 3.0e-17
N 7,477
Large GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 8.0e-17
N 1,122,049
Large GWAS
European
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele G
OR 0.01
p 2.0e-9
N 526,508
Large GWAS
multi-ancestry
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele G
OR 0.01
p 1.0e-9
N 158,284
Large GWAS
multi-ancestry
metabolite measurement
Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele G
OR —
β 0.073
p 5.0e-16
N 2,820
Large GWAS
European
fatty acid amount
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 0.06
p 3.0e-15
N 13,814
Large GWAS
European
serum albumin amount
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 2.0e-11
N 435,807
Large GWAS
multi-ancestry
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 C
OR 0.06
p 2.0e-10
N 5,662
Large GWAS
South Asian
▶ClinVar annotation
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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