ESR2 rs1051510: Understanding This Common Genetic Variant
The rs1051510 variant is a common genetic change located within the ESR2 gene, which encodes the estrogen receptor beta protein. Research suggests this variant may influence how cells respond to estrogen, potentially impacting various reproductive and physiological processes.
What each genotype means
Typical estrogen receptor activity
This genotype represents the common form of the ESR2 variant. Research into this synonymous polymorphism suggests it may play a role in modulating how cells respond to estrogen, though current evidence regarding its specific impact on ovulatory function remains limited and requires further study.
This genotype is common, appearing in a significant portion of European and East Asian populations.
Typical estrogen receptor activity
Carrying one copy of each allele is a common occurrence for this variant. While this site is associated with the estrogen receptor beta gene, there is no definitive evidence that this specific genotype significantly alters biological function or health outcomes in the general population.
This heterozygous genotype is frequently observed, consistent with the variant's high minor allele frequency across major ancestral groups.
Typical estrogen receptor activity
This genotype represents the alternative form of the ESR2 variant. While the variant is located in a gene involved in estrogen signaling, current scientific literature does not support a strong or clinically significant impact on health or fertility for this specific genotype.
This genotype is common, found in a substantial percentage of individuals across European and East Asian cohorts.
What is rs1051510?
The rs1051510 variant is a single-nucleotide polymorphism (SNP) found within the ESR2 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is classified as a synonymous polymorphism, meaning that while it changes the DNA sequence, it does not alter the amino acid sequence of the resulting protein. Despite this, synonymous variants can sometimes influence gene expression, mRNA stability, or the efficiency of protein folding. Located on chromosome 14, the ESR2 gene provides instructions for creating the estrogen receptor beta protein, which acts as a nuclear receptor. By binding to estrogen, this protein helps regulate the expression of various genes involved in growth, development, and the maintenance of tissues throughout the body.
The Role of the ESR2 Gene
The ESR2 gene is essential for the function of estrogen receptor beta, one of the two primary receptors for the hormone estrogen. Estrogen is a critical signaling molecule that influences the reproductive system, skeletal health, and the cardiovascular and nervous systems. By acting as a transcription factor, the estrogen receptor beta protein binds to specific DNA sequences to turn genes on or off in response to estrogen levels. This process is vital for normal physiological function, including the regulation of the menstrual cycle and the maintenance of bone density. Because ESR2 is expressed in various tissues, including the ovaries, brain, and blood vessels, variations in this gene are often studied for their potential roles in complex traits related to hormonal signaling and reproductive health.
Research and Evidence Strength
Current scientific literature has investigated the association between rs1051510 and various reproductive traits, including ovulatory function. The evidence linking this specific SNP to clinical outcomes is currently considered limited. While some studies have explored how this variant might modulate transcriptional responsiveness to estrogens, these findings are often preliminary and require further validation across larger, more diverse cohorts. It is important to note that genetic associations identified in genome-wide association studies (GWAS) often reflect complex interactions between multiple genes and environmental factors. Consequently, the presence of this variant does not serve as a diagnostic tool for any specific condition. Researchers continue to study the functional implications of this SNP to better understand its role in human biology, but current data should be interpreted as exploratory rather than definitive.
What You Can Do With This Information
Understanding your genetic profile can be an educational experience, but it is important to maintain realistic expectations regarding the utility of this information. Because the evidence for rs1051510 is limited, it cannot be used to predict health outcomes or diagnose medical conditions. Genetic variants are only one piece of a much larger puzzle that includes lifestyle, environment, and other genetic factors. If you have questions about your reproductive health, hormonal balance, or any concerns regarding your physical well-being, the most appropriate course of action is to consult with a qualified healthcare provider or a genetic counselor. They can provide personalized guidance based on your medical history and clinical symptoms. Avoid making health decisions based solely on direct-to-consumer genetic reports, as these are intended for informational purposes only.
How common is this variant?
The rs1051510 variant is considered common, with a minor allele frequency (MAF) of approximately 0.40 across both European and East Asian cohorts.
Frequently asked questions
Is rs1051510 associated with a specific disease?
Current research does not establish a direct causal link between rs1051510 and any specific disease. While it has been studied in the context of reproductive traits, the evidence remains limited and inconclusive.
Can I use this SNP to predict my fertility?
No, this SNP cannot be used to predict fertility. Reproductive health is a complex trait influenced by many genetic and environmental factors, and this variant is not a reliable clinical marker.
What does 'synonymous polymorphism' mean?
A synonymous polymorphism is a change in the DNA sequence that does not change the amino acid produced by the gene. It is often referred to as a 'silent' mutation, though it may still have subtle effects on gene regulation.
Should I be concerned if I have the G allele?
There is no reason for concern. The G allele is a common variation found in a large portion of the healthy population and is not considered a marker for disease risk.
Sources & further reading
Educational information only, last refreshed 9/25/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1051510?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in ESR2
Coding variant in estrogen receptor beta (ESR2) associated with dysregulated local endometrial estrogen signaling and increased predisposition to deep infiltrating endometriosis.
ESR2 variant associated with age at natural menopause and estrogen signaling.
Coding variant in estrogen receptor beta (ESR2) associated with ovulatory dysfunction and endometriosis risk.