ENG rs1085307436: What Your Genotype Means
The rs1085307436 variant is a rare genetic change located within the ENG gene. This variant is associated with hereditary hemorrhagic telangiectasia (HHT), a condition that affects the development of blood vessels.
What each genotype means
Typical ENG gene profile
This genotype represents the most common sequence found in the ENG gene. It is not associated with the vascular anomalies characteristic of hereditary hemorrhagic telangiectasia (HHT).
This is the most common genotype observed across all global populations.
Potential HHT risk variant
This genotype indicates the presence of one copy of the variant, which is associated with hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant condition. Because HHT is a multisystemic vascular disorder, individuals with this genotype should consult with a medical geneticist or specialist to discuss clinical screening and personal health history.
This genotype is rare, consistent with the overall prevalence of HHT estimated at approximately 1 in 5,000 individuals.
Potential HHT risk variant
This genotype indicates the presence of two copies of the variant associated with hereditary hemorrhagic telangiectasia (HHT). As HHT is an autosomal dominant condition, this finding warrants professional clinical evaluation to assess for vascular dysplasia and related symptoms. Please discuss these results with a healthcare provider to determine if further diagnostic testing or monitoring is appropriate.
This genotype is extremely rare in the general population.
Understanding the Variant
The rs1085307436 variant is a specific alteration in the DNA sequence of the ENG gene. Located on chromosome 9, the ENG gene provides instructions for making a protein called endoglin. When a variation occurs at this specific position, it can potentially alter the structure or function of the endoglin protein. Genetic variants like this are identified by their unique reference SNP cluster ID, or rsID, which allows researchers to track and study them across different studies and populations. Because this specific variant is categorized as rare, it is not commonly found in the general population, and its clinical significance is often evaluated in the context of specific health conditions related to vascular integrity. Understanding your genetic profile requires looking at these specific markers in the context of your overall health history.
The Role of the ENG Gene
The ENG gene is essential for the proper formation and maintenance of blood vessels, a process known as angiogenesis. It encodes the endoglin protein, which sits on the surface of endothelial cells—the cells that line the interior of your blood vessels. Endoglin acts as a co-receptor, helping cells respond to signals from the transforming growth factor-beta (TGF-beta) protein family. These signals are crucial for controlling how endothelial cells grow, migrate, and stick together to form stable, healthy vessels. When this signaling pathway is disrupted, it can lead to fragile or malformed blood vessels, which are characteristic of certain vascular disorders. Proper function of this gene is vital for maintaining the structural integrity of the circulatory system throughout the body.
Research and Associations
Research has linked variants in the ENG gene to hereditary hemorrhagic telangiectasia (HHT), particularly type 1 (HHT1). HHT is a condition that can cause abnormal connections between arteries and veins, known as arteriovenous malformations, and small, dilated blood vessels called telangiectasias. The evidence linking specific ENG mutations to HHT is well-established, as the gene is a primary driver of the condition. However, the evidence strength for any single variant, such as rs1085307436, can vary depending on clinical data and functional studies. Current research categorizes the association between this variant and HHT as moderate, meaning that while the gene is known to be involved in the disease, further study may be required to fully understand the specific impact of this individual change. Always consult with a medical professional to interpret how these findings relate to your health.
What You Can Do
Genetic information is for educational purposes and should not be used for self-diagnosis. If you have concerns about your health or family history, the most important step is to discuss these findings with a qualified clinician or a genetic counselor. They can help interpret your results in the context of your personal and family medical history, and determine if further clinical testing is appropriate. Because this variant is rare and associated with a specific vascular condition, professional guidance is essential for understanding any potential clinical relevance. You cannot change your genetic code, but understanding your risk factors can help you and your healthcare provider make informed decisions about your long-term health monitoring and care strategies.
How common is this variant?
The rs1085307436 variant is classified as rare, meaning it occurs at a very low frequency across human populations. It is not typically found in standard screenings of the general population.
Frequently asked questions
What is hereditary hemorrhagic telangiectasia (HHT)?
HHT is a genetic disorder that causes blood vessels to form abnormally, often leading to frequent nosebleeds, skin redness, and potential issues in organs like the lungs, liver, or brain. It is an autosomal dominant condition, meaning a person only needs to inherit the variant from one parent to be at risk.
Does having this variant mean I have HHT?
Not necessarily. Genetic variants represent potential risks, but clinical diagnosis is based on physical symptoms and professional medical evaluation. You should consult with a doctor to discuss any clinical significance regarding your specific results.
Can I prevent HHT if I have this variant?
HHT is a genetic condition, so the variant itself cannot be prevented or removed. However, medical professionals can help monitor for symptoms and provide management strategies to reduce risks associated with vascular malformations.
Where can I find more information?
For reliable health information, you can visit resources like MedlinePlus Genetics or consult with a genetic counselor. These professionals can help interpret your results in the context of your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 10/1/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1085307436?
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 ENG
Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
A variant in the ENG gene potentially impacting protein function related to vascular development.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.