EPAS1 rs137853036: What Your Genotype Means
The rs137853036 variant is a specific genetic change located within the EPAS1 gene. It is clinically associated with familial erythrocytosis type 4, a condition characterized by an increased number of red blood cells.
What each genotype means
Typical EPAS1 profile
This genotype represents the common, non-pathogenic sequence for this position in the EPAS1 gene. It is not associated with the development of familial erythrocytosis type 4.
This is the most common genotype found in the general population across all ancestries.
Pathogenic variant carrier
This genotype includes a pathogenic mutation (p.Gly537Trp) in the EPAS1 gene, which is associated with familial erythrocytosis type 4. Individuals with this variant may experience increased red blood cell production, which can lead to symptoms like headaches or dizziness; please discuss these findings with a healthcare provider for clinical context.
This genotype is extremely rare in the general population.
Pathogenic variant carrier
This genotype includes a pathogenic mutation (p.Gly537Arg) in the EPAS1 gene, which is linked to familial erythrocytosis type 4. This condition involves an overproduction of red blood cells, and you should consult with a clinician to determine if any medical follow-up or monitoring is appropriate for your health profile.
This genotype is extremely rare in the general population.
Understanding the Variant
The variant rs137853036 is a single nucleotide polymorphism (SNP) located on chromosome 2 within the EPAS1 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is cataloged in major databases like dbSNP and ClinVar, where it has been identified as a pathogenic variant. Pathogenic in this context means that the specific change in the DNA sequence is associated with a known clinical condition. Because this variant is rare, it is not commonly found in the general population. Researchers track such variants to understand how small changes in our genetic code can influence physiological processes, such as how our bodies respond to oxygen levels. It is important to note that the presence of a variant does not guarantee the development of a condition, as genetic expression is complex and influenced by many factors.
The Role of the EPAS1 Gene
The EPAS1 gene provides the instructions for creating a protein known as hypoxia-inducible factor 2-alpha (HIF-2α). This protein is a critical component of the body's oxygen-sensing system. Under normal oxygen conditions, the body regulates HIF-2α by breaking it down to prevent it from accumulating. However, when oxygen levels are low, the body slows this degradation process, allowing HIF-2α to accumulate and trigger the expression of genes that help the body adapt to hypoxia. One of the primary functions of this pathway is to stimulate the production of erythropoietin, a hormone that signals the bone marrow to produce more red blood cells. When the EPAS1 gene is altered, this delicate balance can be disrupted, potentially leading to the overproduction of red blood cells, which is the hallmark of familial erythrocytosis.
Clinical Associations and Evidence
Research has linked the rs137853036 variant to familial erythrocytosis type 4 (ECYT4). This is an inherited condition where individuals have an abnormally high red blood cell mass and elevated hemoglobin concentration. Clinical databases classify this variant as pathogenic based on its association with this condition. Familial erythrocytosis can manifest with symptoms such as headaches, dizziness, or shortness of breath, though many individuals may remain asymptomatic or experience only mild effects. The excess red blood cells can theoretically increase the risk of blood clots, which may lead to complications like heart attack or stroke in some cases. The evidence supporting this association is considered moderate, reflecting the rarity of the variant and the ongoing nature of clinical research. It is essential to consult with a healthcare professional or a genetic counselor to interpret what these findings mean in the context of an individual's personal and family health history.
Interpreting Your Results
If you have received information regarding your status for rs137853036, it is important to approach this data with a clear understanding of its limitations. This information is for educational purposes and does not constitute a medical diagnosis. Genetic variants are only one piece of a much larger puzzle that includes your environment, lifestyle, and other genetic factors. You cannot use this information to self-diagnose or make decisions about medical treatments. If you are concerned about symptoms related to erythrocytosis, such as persistent headaches or circulation issues, you should discuss these with your primary care physician or a specialist. They can order appropriate clinical tests, such as a complete blood count, to assess your actual red blood cell levels. Never make changes to your health regimen based solely on a genetic report without professional medical guidance.
How common is this variant?
The rs137853036 variant is classified as rare in the general population, meaning it is not commonly observed in large-scale genomic studies.
Frequently asked questions
What is familial erythrocytosis type 4?
Familial erythrocytosis type 4 is an inherited condition where the body produces too many red blood cells. This is often caused by mutations in the EPAS1 gene that disrupt the body's ability to sense oxygen levels correctly.
Does having this variant mean I have a disease?
Not necessarily. While this variant is associated with a specific condition, genetic testing results should always be interpreted by a healthcare professional. Many people with genetic variants do not show clinical symptoms.
How can I get tested for this variant?
Clinical genetic testing is typically ordered by a doctor or genetic counselor if there is a family history or clinical suspicion of a blood disorder. You should speak with your physician about whether testing is appropriate for you.
What should I do if I have this variant?
If you are concerned about your results, schedule an appointment with your doctor. They can evaluate your health, review your family history, and determine if any clinical monitoring is necessary.
Sources & further reading
Educational information only, last refreshed 10/1/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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