F11 rs139695003: Understanding Factor XI Deficiency Carrier Status
The rs139695003 variant is a genetic change located in the F11 gene, which provides instructions for making a protein essential for blood clotting. This specific variant is associated with carrier status for hereditary factor XI deficiency, a condition that can affect how well your blood clots.
What each genotype means
Typical factor XI levels
This genotype represents the most common form of the F11 gene at this position. Individuals with this profile are not expected to have the specific genetic variation associated with hereditary Factor XI deficiency.
This is the most common genotype observed in the general population.
Factor XI deficiency carrier
This genotype indicates you carry one copy of the variant associated with hereditary Factor XI deficiency. Carriers typically do not exhibit symptoms of the condition, though you should discuss any concerns regarding bleeding risks during surgery or dental procedures with your clinician.
This genotype is rare in the general population.
Factor XI deficiency risk
This genotype is associated with hereditary Factor XI deficiency, a condition that can affect blood coagulation. Individuals with this profile may have an increased risk of bleeding, particularly during surgery or trauma; please consult with a hematologist or your primary care physician to discuss your clinical status.
This genotype is very rare in the general population.
What is rs139695003?
The variant rs139695003 is a specific change in the DNA sequence of the F11 gene, located on chromosome 4. In genetic terms, this is a single nucleotide polymorphism (SNP), meaning a single building block of DNA has been altered. Specifically, the reference version of this site typically contains a cytosine (C), while the variant version contains a thymine (T). This change is significant because it occurs within a gene responsible for a critical component of the body's coagulation cascade. Scientists track this variant to understand how it influences the production or function of the factor XI protein. Because it is located in a region of the genome that codes for this protein, changes here can potentially disrupt the normal blood-clotting process, leading to the clinical associations observed in research studies.
The Role of the F11 Gene
The F11 gene encodes coagulation factor XI, a protein that plays a vital role in the middle phase of the intrinsic pathway of blood coagulation. When a blood vessel is injured, a series of chemical reactions occurs to form a clot and stop bleeding. Factor XI is activated during this process and subsequently triggers the activation of factor IX, which is essential for the final formation of a stable blood clot. When the F11 gene contains mutations, the body may produce insufficient amounts of factor XI or a version of the protein that does not function correctly. This impairment slows down the clotting process, which can lead to a bleeding disorder known as factor XI deficiency, or hemophilia C. Understanding the function of this gene is key to grasping why variations like rs139695003 are clinically relevant.
Research and Clinical Evidence
Research has linked the rs139695003 variant to hereditary factor XI deficiency. Evidence from databases like ClinVar classifies this variant as likely pathogenic, meaning there is a strong scientific consensus that it contributes to the condition. Individuals who carry this variant may experience reduced levels of functional factor XI in their blood. While factor XI deficiency is generally considered a mild bleeding disorder, it can lead to symptoms such as easy bruising, nosebleeds, or prolonged bleeding after surgery or trauma. The severity of these symptoms can vary significantly between individuals, even among family members with the same genetic profile. Because the evidence for this variant's impact is well-documented in clinical literature, it is often included in genetic screening panels to help identify individuals who may be at risk for or carriers of this clotting disorder.
Population Frequency
The rs139695003 variant is considered rare in the general population. While it is not widespread across all ethnic groups, certain hereditary conditions related to the F11 gene have been observed to be more common in specific populations, such as individuals of Ashkenazi Jewish descent. Because the variant is rare, most people do not carry it. Genetic databases like gnomAD provide data on how often this variant appears in different ancestral groups, which helps researchers understand its distribution. If you have received a report indicating you carry this variant, it is important to remember that rarity does not diminish the need for clinical context. Population-level statistics provide a broad picture, but your individual health history and family background are the most important factors for your doctor to consider when evaluating your risk.
What This Information Means for You
If you have identified that you carry the rs139695003 variant, it is important to approach this information as a starting point for a conversation with a healthcare professional. This result does not constitute a medical diagnosis. A doctor or a genetic counselor can help you interpret what this means in the context of your personal and family medical history. They may recommend further testing, such as a blood test to measure your actual factor XI levels, to determine if your clotting function is affected. If you are planning surgery, dental work, or are pregnant, it is essential to inform your medical team about your carrier status, as they may need to take specific precautions to manage bleeding risks. Always consult with a clinician or pharmacist before making any changes to your health management or medication regimen, especially regarding drugs that affect platelet function.
How common is this variant?
The rs139695003 variant is rare in the general population, though its frequency can vary significantly depending on ancestral background.
Frequently asked questions
Is rs139695003 the same as hemophilia?
The rs139695003 variant is associated with factor XI deficiency, which is sometimes referred to as hemophilia C. Unlike hemophilia A or B, which are typically more severe, factor XI deficiency is generally a milder bleeding disorder.
Do I need to see a doctor if I have this variant?
If you are a carrier or have the variant, it is advisable to discuss this with your primary care physician or a hematologist. They can assess your personal bleeding history and determine if any clinical follow-up is necessary.
Can I take aspirin if I have this variant?
Aspirin and other NSAIDs can affect platelet function and may be contraindicated for individuals with bleeding disorders. You must consult your clinician or pharmacist before taking these medications to ensure they are safe for you.
Is this variant inherited?
Yes, this variant is genetic and can be passed from parents to children. If you carry the variant, it is worth discussing family history with your relatives, as they may also carry the same genetic change.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This deletion variant is associated with hereditary factor XI deficiency, which can lead to increased bleeding risk.
This variant is linked to carrier status for hereditary factor XI deficiency.
This variant in the F11 gene is associated with hereditary factor XI deficiency, a condition that can lead to bleeding disorders.
This SNP is linked to hereditary factor XI deficiency, where carriers may have reduced levels of factor XI protein.
This variant is associated with hereditary factor XI deficiency, with homozygous carriers showing increased clinical risk.
This variant is associated with hereditary factor XI deficiency, a condition that can lead to bleeding disorders.