rs146939415

This is a regulatory region variant variant in the CYP19A1 gene.

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GWAS Catalog Trait Associations (8)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.05
p 8.0e-19
N 405,540
Large GWAS
European

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele C
OR 1.12
p 6.0e-14
N 1,962,069
Large GWAS
multi-ancestry

osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele C
OR 1.18
p 4.0e-13
N 1,316,500
Large GWAS
multi-ancestry

osteoarthritis, hip, osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele C
OR 1.15
p 1.0e-11
N 1,294,321
Large GWAS
multi-ancestry

osteoarthritis, knee, total knee arthroplasty

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele C
OR 1.26
p 2.0e-9
N 1,006,624
Large GWAS
multi-ancestry

adipose amount

Ahmed A et al. “MRI-Based Genetic Studies Reveal Specific Genetic Variants and Disease Risks Associated With Fat Distribution Across Anatomical Sites.” Journal of Obesity 2025:7792701 (2025)
Allele G
OR 0.19
p 6.0e-9
N 37,589
Large GWAS
European

alpha angle measurement

Faber BG et al. “A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults.” Arthritis & Rheumatology (hoboken, N.j.) 75(6):900-909 (2023)
Allele C
OR 0.17
p 2.0e-8
N 44,214
Meta-analysisLarge GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.03
p 3.0e-8
N 405,979
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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