rs140312320
This is a downstream gene variant variant in the PITX3 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.
alkaline phosphatase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.07
p 2.0e-58
N 463,178
Large GWAS
multi-ancestry
phospholipids:total lipids ratio
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.06
p 2.0e-56
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in very small VLDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.04
p 3.0e-18
N 450,015
Large GWAS
multi-ancestry
sex hormone-binding globulin measurement
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.02
p 1.0e-8
N 189,473
Large GWAS
European
About PITX3
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
View all PITX3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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