ENG rs35400405: What Your Genotype Means
The rs35400405 variant is a genetic marker located within the ENG gene, which provides instructions for making a protein essential for vascular health. Research has investigated this variant in the context of vascular malformation phenotypes and related conditions.
What each genotype means
Typical ENG variant profile
This genotype represents the homozygous state for the reference allele at this position in the ENG gene. Current research does not identify this specific genotype as a primary driver of vascular malformations, though the ENG gene itself is well-established in clinical genetics regarding hereditary hemorrhagic telangiectasia. As this is a common genotype, it is generally considered to be the expected baseline in the general population.
This is the most common genotype observed in the general population.
Heterozygous ENG variant carrier
This genotype indicates you carry one copy of the minor allele at this position. While the ENG gene is associated with vascular conditions, the clinical significance of this specific heterozygous variant remains limited in current literature. You should view this as a common genetic variation rather than a diagnostic finding.
This genotype is found in a small percentage of the population, with a global minor allele frequency of approximately 4%.
Minor allele homozygous profile
This genotype represents the homozygous state for the minor allele. While variants in the ENG gene are studied for their role in vascular health, there is currently insufficient evidence to suggest this specific genotype confers a significant clinical risk. It is important to interpret this in the context of your overall health history rather than as an isolated finding.
This genotype is rare, occurring in a small fraction of the population based on current genomic databases.
Understanding the SNP and Its Location
The variant rs35400405 is a single nucleotide polymorphism (SNP) situated on chromosome 9. In the human genome, this specific position is part of the ENG gene, which encodes the endoglin protein. A SNP represents a change in a single building block of DNA, known as a nucleotide. While most SNPs are common and have little impact on health, others are rare and may be studied for their potential influence on biological processes. The rs35400405 variant is categorized as a rare genetic marker, meaning it is not frequently observed in the general population. Scientists track these specific locations to understand how variations in our genetic code might contribute to differences in human health and disease susceptibility.
The Role of the ENG Gene
The ENG gene is responsible for producing endoglin, a protein primarily found on the surface of endothelial cells, which line the interior of blood vessels. Endoglin acts as a critical component of the transforming growth factor-beta (TGF-beta) receptor complex. This signaling pathway is vital for maintaining the structural integrity of blood vessels and regulating the development of the vascular system. When the ENG gene functions correctly, it helps ensure that blood vessels form and repair themselves properly. Mutations or significant variations in this gene can disrupt these processes, potentially leading to vascular dysplasias. Because of its central role in vascular biology, the ENG gene is a primary focus for researchers studying conditions characterized by abnormal blood vessel development.
Research Associations and Evidence Strength
Scientific literature has explored the relationship between variants in the ENG gene and various vascular conditions, including hereditary hemorrhagic telangiectasia (HHT). HHT is a multisystemic vascular disorder that can lead to abnormal connections between arteries and veins. While some mutations in ENG are known to cause HHT, the evidence linking rs35400405 specifically to clinical disease is considered moderate or limited. Some studies have examined this variant in the context of pulmonary arterial hypertension and other vascular phenotypes, but findings are often mixed or require further validation. It is important to note that the presence of a specific variant does not automatically imply the presence of a disease. Genetic associations are statistical in nature, and the biological impact of a single SNP can be influenced by many other genetic and environmental factors.
Population Frequency and Interpretation
The rs35400405 variant is classified as rare across most global populations. Because it is not a common variant, large-scale population studies often have limited data regarding its frequency in specific ancestral groups. When a variant is rare, it is difficult to establish definitive clinical significance without extensive family-based studies or large-scale clinical cohorts. For individuals who may encounter this variant in a genetic report, it is essential to understand that such findings are often preliminary. Genetic information should always be interpreted within the context of a person's overall health history and clinical presentation. Because the evidence for this specific SNP is not conclusive, it is not typically used as a standalone diagnostic tool in clinical practice.
What You Can and Cannot Do With This Information
If you have received information about your status for rs35400405, it is important to approach it with a balanced perspective. You cannot use this information to diagnose yourself with a medical condition or to predict future health outcomes with certainty. Genetic variants are only one piece of a complex biological puzzle. If you are concerned about vascular health or have a family history of vascular conditions, the most effective step is to consult with a healthcare professional or a genetic counselor. They can help you interpret your results in the context of your personal health history and determine if any further clinical evaluation is necessary. Avoid making medical decisions based solely on online genetic reports, as these tools are for educational purposes and do not replace professional medical advice.
How common is this variant?
The rs35400405 variant is rare across global populations, with the G allele being the most common reference sequence.
Frequently asked questions
Is rs35400405 a cause of hereditary hemorrhagic telangiectasia?
While the ENG gene is associated with hereditary hemorrhagic telangiectasia, the specific variant rs35400405 does not have a definitive, well-established causal link to the condition in the general population. Genetic associations are complex, and clinical diagnosis is based on specific criteria rather than a single SNP.
Should I be worried if I have the A allele for rs35400405?
Finding a rare variant in your genetic report does not necessarily mean you have a health problem. Many rare variants have no known clinical impact, and you should discuss any concerns with a qualified healthcare provider who can review your full medical history.
Where can I find more information about the ENG gene?
You can find reliable, peer-reviewed information about the ENG gene and its functions on resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive summaries of gene function and known disease associations.
Can a genetic test tell me if I have vascular malformations?
Genetic testing is one tool used in the diagnosis of certain vascular conditions, but it is usually performed in a clinical setting based on symptoms or family history. A direct-to-consumer SNP report is not a substitute for a clinical diagnostic test performed by a medical professional.
Sources & further reading
Educational information only, last refreshed 10/9/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.