ESR1 rs2234694: What Your Genotype Means
The rs2234694 variant is a single nucleotide polymorphism located within the ESR1 gene, which encodes the estrogen receptor alpha protein. This specific variant is studied for its potential associations with reproductive health, including endometrial receptivity and individual responses to ovarian stimulation.
What each genotype means
Typical ESR1 variant profile
This genotype represents the homozygous state for the A allele at this position. Current research on this specific variant is limited, and it is not definitively linked to clinical outcomes in reproductive health. Please consult with a fertility specialist or genetic counselor if you have concerns regarding reproductive outcomes.
This genotype is common globally, though exact frequencies vary significantly by ancestral background.
Typical ESR1 variant profile
This genotype represents the heterozygous state for the A and C alleles. There is currently insufficient evidence to suggest that carrying one copy of each allele significantly alters estrogen receptor function or reproductive health outcomes. Discuss any specific reproductive health questions with your healthcare provider.
This genotype is observed frequently across diverse populations, reflecting the high minor allele frequency of this variant.
Typical ESR1 variant profile
This genotype represents the homozygous state for the C allele. While some variants in the ESR1 gene are studied for their potential role in endometrial receptivity or ovarian stimulation response, this specific variant does not have a well-established clinical impact. Always discuss your reproductive health history and any planned treatments with a qualified clinician.
This genotype is common in many populations, consistent with the global minor allele frequency of approximately 0.40.
Understanding the rs2234694 Variant
The rs2234694 variant is a specific change in the DNA sequence of the ESR1 gene. In genetics, a single nucleotide polymorphism, or SNP, represents a variation at a single position in the DNA chain. This particular SNP is categorized as a regulatory variant, meaning it is located in a region of the gene that may influence how the gene is turned on or off, rather than changing the structure of the protein itself. Because it sits within the regulatory landscape of the ESR1 gene, researchers investigate whether this variation alters the expression levels of the estrogen receptor in tissues where it is active, such as the lining of the uterus or the ovaries.
The Role of the ESR1 Gene
The ESR1 gene provides instructions for making the estrogen receptor alpha protein. This protein acts as a ligand-activated transcription factor, which means it binds to estrogen and then travels to the cell nucleus to regulate the activity of many other genes. By controlling these downstream genes, the estrogen receptor plays a fundamental role in various biological processes, including sexual development, bone metabolism, and reproductive function. Because it is expressed in many tissues throughout the body, the ESR1 gene is a major focus in studies concerning breast cancer, osteoporosis, and various aspects of female reproductive health. Its ability to respond to hormonal signals makes it a critical component of the endocrine system.
Research and Reproductive Associations
Scientific research has explored the link between ESR1 variants and reproductive outcomes, including endometrial receptivity and the response to ovarian stimulation. Endometrial receptivity refers to the window of time when the uterine lining is prepared for embryo implantation. Some studies suggest that variations in ESR1 may influence how the uterus responds to hormonal cues during this process. Additionally, researchers have examined whether certain genotypes correlate with how a person's ovaries respond to medications used during fertility treatments. It is important to note that the evidence for these associations is currently considered moderate. Genetic associations are complex, and many factors beyond a single SNP contribute to reproductive health. Findings in this field are often subject to ongoing validation across diverse populations.
Population Frequency
The rs2234694 variant is relatively common, with a global minor allele frequency reported at approximately 0.40. This indicates that the variant is widely distributed across different human populations, though specific frequencies can vary depending on ancestral background.
Interpreting Your Genetic Information
Understanding your genotype for rs2234694 provides a glimpse into one small piece of your genetic makeup. However, it is essential to recognize that this information cannot be used to diagnose any medical condition or predict specific reproductive outcomes. Genetic markers are only one part of a much larger picture that includes environmental factors, lifestyle, and other genetic influences. If you are interested in how your genetic profile might relate to fertility treatments or reproductive health, you should discuss this information with a qualified clinician or a reproductive endocrinologist. They can provide context based on your personal medical history and help you understand the clinical relevance of such markers in a professional setting.
How common is this variant?
The rs2234694 variant is common globally, with a minor allele frequency of approximately 0.40 across diverse populations.
Frequently asked questions
What does the ESR1 gene do?
The ESR1 gene encodes the estrogen receptor alpha, a protein that helps regulate gene expression in response to estrogen. It is vital for reproductive health, bone density, and various metabolic processes.
Can rs2234694 predict fertility success?
No, this variant cannot predict fertility success. While it is studied for associations with ovarian stimulation response, reproductive outcomes are influenced by many complex genetic and environmental factors.
Should I change my medication based on this SNP?
You should never change your medication based on genetic test results without consulting your doctor. Always discuss any concerns about treatment or dosing with your clinician or pharmacist.
Is rs2234694 a disease-causing mutation?
No, rs2234694 is a common genetic variant, not a disease-causing mutation. It is a normal variation in the human genome that is studied for its potential influence on biological traits.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the estrogen receptor 1 gene is associated with an increased risk of endometriosis and may influence cognitive aging.
Estrogen receptor 1 variant associated with altered circulating estradiol levels, follicular maturation, and variability in age at natural menopause.
Variant in estrogen receptor 1 associated with variation in female reproductive timing, including age at menarche and natural menopause onset.
Common polymorphism in estrogen receptor alpha (ESR1) affecting target tissue responsiveness to estrogen, recurrent pregnancy loss risk, and bone-reproductive axis interactions.
Estrogen receptor 1 regulatory variant associated with variation in timing of menarche and bone density response to sex hormones.
Estrogen receptor 1 missense and intronic regulatory variation associated with ovarian responsiveness and fertilization rates in assisted reproductive technology.