rs12591359

This is a downstream gene variant variant in the CYP19A1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

estradiol measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele A
OR 0.09
p 4.0e-30
N 39,165
Large GWAS
European
Pott J et al. “Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.” The Journal of Clinical Endocrinology and Metabolism 104(11):5008-5023 (2019)
Allele A
OR 0.06
p 3.0e-10
N 6,798
Large GWAS
European

About CYP19A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

View all CYP19A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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