rs1065778

This variant is located 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.

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)

Allele T

OR 0.06

p 3.0e-18

N 43,485

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families

AssociationN=1,873Tie-Lin Yang et al.(2006)· Human Genetics

This family-based association study examined CYP19 gene polymorphisms and their relationship with adult height in 1,873 Caucasian subjects from 405 nuclear families. Using QTDT and FBAT analyses, the authors found SNP rs730154 significantly associated with height (QTDT P=0.0030, FBAT P=0.0016), with the strongest associations observed in female subjects. Haplotype analysis corroborated these findings, showing that haplotypes in block 4 containing rs730154 were significantly associated with height variation, suggesting CYP19 may influence adult height through estrogen-related pathways.

Traits studied:Adult height variationHeight

PubMed DOI Metascience Observatory

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]