CYP19A1 rs700519: Understanding Your Genetic Variant
The rs700519 variant is a single-nucleotide polymorphism located within the CYP19A1 gene, which provides instructions for the aromatase enzyme. This variant is studied for its potential role in modulating estrogen biosynthesis efficiency and influencing hormone levels in postmenopausal individuals.
What each genotype means
Common aromatase genotype
This is the most frequently observed genotype for this variant in many global populations. Research into this specific marker has yielded mixed results, with some studies suggesting it may serve as a molecular marker for breast cancer risk or hormone therapy response, while others have found no significant association with clinical outcomes or circulating hormone levels. Because evidence is limited and often conflicting, this genotype should not be used to predict individual health outcomes.
This is the most common genotype, carried by the majority of individuals in most studied populations.
Heterozygous aromatase variant
You carry one copy of the common allele and one copy of the less common variant. Scientific literature regarding this specific genotype is inconsistent, with some studies exploring its potential role in reproductive health or cancer susceptibility, while others report no measurable impact on aromatase function or hormone levels. As the evidence remains limited, this genotype does not provide a clear clinical indication for health management.
This genotype is found in a minority of the population, with frequencies varying significantly by ancestry.
Minor allele aromatase genotype
This genotype represents the homozygous state for the less common allele. While some research has investigated whether this variant influences aromatase activity or disease risk, findings have been largely inconclusive or contradictory across different studies. There is currently no consensus that this genotype significantly alters estrogen biosynthesis or clinical health outcomes, and it should not be interpreted as a diagnostic indicator.
This is the least common genotype, occurring at a low frequency in most global populations.
What is rs700519 and Where is it Located?
The rs700519 variant is a specific change in the DNA sequence within the CYP19A1 gene. In genetics, a single-nucleotide polymorphism (SNP) represents a variation at a single position in the DNA chain. The CYP19A1 gene is located on chromosome 15 at position 15q21.2. This gene is responsible for encoding the aromatase enzyme, a critical component of the cytochrome P450 superfamily. Because this SNP sits within a gene involved in complex hormonal pathways, researchers often investigate whether such variations influence how the body produces or processes sex steroid hormones. Understanding the location of this variant helps scientists map its potential influence on the regulatory regions or coding sequences that dictate how much aromatase is produced in different tissues throughout the body.
The Role of the CYP19A1 Gene
The CYP19A1 gene is essential for the production of estrogen. It encodes the aromatase enzyme, which acts as a catalyst in the final, irreversible steps of estrogen biosynthesis. Specifically, aromatase converts androgens—such as androstenedione and testosterone—into estrogens like estrone and estradiol. This process is vital for reproductive health, bone density maintenance, and various metabolic functions. Because estrogen acts as both a sex steroid hormone and a signaling molecule in growth and differentiation, the activity of the aromatase enzyme is tightly regulated. Alternative promoter use and splicing allow the gene to be expressed in different tissues, including the ovaries, adipose tissue, and the brain. When the function of this enzyme is altered, it can lead to significant physiological changes, highlighting the importance of the CYP19A1 gene in maintaining hormonal balance.
Research Associations and Evidence Strength
Research into rs700519 primarily focuses on its association with estrogen biosynthesis efficiency and hormone levels, particularly in postmenopausal populations. While some studies explore links between CYP19A1 variants and hormone-related traits, the evidence strength for rs700519 specifically remains limited. Genetic associations are often complex, and findings can vary significantly based on the population studied, environmental factors, and the specific hormonal markers being measured. It is important to note that while statistical associations are observed in research settings, they do not necessarily imply a direct cause-and-effect relationship for an individual's health. Much of the current literature is exploratory, and more large-scale, multi-ethnic studies are required to confirm the clinical significance of this specific variant. Consequently, this information should be viewed as a contribution to the broader understanding of genetic diversity rather than a diagnostic tool.
Population Frequency
The rs700519 variant is relatively common, with a minor allele frequency (MAF) of approximately 0.38 in global populations. This frequency indicates that the variant is widely distributed across diverse ancestral groups, making it a frequent subject of study in population genetics.
What You Can and Cannot Do With This Information
Genetic information regarding variants like rs700519 is intended for educational purposes and to foster a better understanding of human biological diversity. You cannot use this information to diagnose a medical condition, predict specific health outcomes, or determine your risk for hormone-related diseases. Genetic markers are only one piece of a much larger puzzle that includes lifestyle, environment, and other genetic factors. If you have concerns about your hormone levels, reproductive health, or the potential impact of your genetics on your well-being, the most appropriate step is to consult with a qualified healthcare professional. They can provide context based on your personal medical history and clinical testing. Never make changes to your health regimen or medication based on genetic data without first discussing it with your clinician or pharmacist.
How common is this variant?
The rs700519 variant is common globally, with a minor allele frequency of approximately 0.38 across diverse populations.
Frequently asked questions
What does the CYP19A1 gene do?
The CYP19A1 gene provides the instructions for making the aromatase enzyme. This enzyme is responsible for converting androgens into estrogens, which is a critical step in hormone production.
Is rs700519 a disease-causing mutation?
No, rs700519 is a common genetic variant, not a disease-causing mutation. While some variants in CYP19A1 are linked to specific medical conditions, rs700519 is generally studied for its role in normal hormonal variation.
Can I use this information to change my medication?
No. You should never change your medication or dosing based on genetic information. Always consult with your clinician or pharmacist before making any changes to your prescribed treatments.
Where can I find more information about my specific genotype?
You can discuss your genetic results with a genetic counselor or your primary care physician. They can help interpret your results within the context of your overall health and medical history.
Sources & further reading
Educational information only, last refreshed 9/25/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the aromatase gene is associated with circulating estrogen levels and influences the timing of natural menopause and cardiovascular risk profiles in postmenopausal women.
This regulatory variant in the aromatase gene is associated with circulating estradiol levels and the timing of natural menopause.
Pathogenic variant causing aromatase deficiency characterized by female pseudohermaphroditism, maternal virilization during pregnancy, and absent pubertal development.
Intronic variant in the CYP19A1 gene associated with circulating estradiol and follicle-stimulating hormone (FSH) levels in men.
This variant in the aromatase gene is associated with variations in sex hormone levels and potential risk modulation for hormone-dependent reproductive cancers.
Affects aromatase activity, influencing efficacy and toxicity in hormone-sensitive cancer treatments.