F11 rs1057516738: Understanding Factor XI Deficiency Carrier Status
The rs1057516738 variant is a genetic change located within the F11 gene, which provides instructions for making the coagulation factor XI protein. This variant is associated with hereditary factor XI deficiency, a condition that can affect the blood's ability to clot properly.
What each genotype means
Typical factor XI levels
This genotype represents the most common genetic sequence found in the general population. It is not associated with the hereditary factor XI deficiency linked to this variant.
This is the most common genotype observed in the general population.
Factor XI deficiency carrier
You carry one copy of the variant associated with hereditary factor XI deficiency. Carriers may have reduced levels of factor XI protein, which can sometimes lead to a mild bleeding tendency, though many carriers remain asymptomatic.
This genotype is rare in the general population.
Potential factor XI deficiency
This genotype is associated with hereditary factor XI deficiency, a condition that may cause prolonged or excessive bleeding following surgery, trauma, or dental procedures. You should discuss these findings with a healthcare provider to determine if clinical testing for factor XI levels is appropriate for your health management.
This genotype is very rare in the general population.
What is the F11 Gene?
The F11 gene is located on chromosome 4 and is responsible for producing a protein known as coagulation factor XI. This protein plays a critical role in the complex cascade of events that allows blood to clot, a process essential for stopping bleeding after an injury. When the F11 gene functions normally, it ensures that sufficient levels of factor XI are present in the bloodstream to facilitate effective clotting. Mutations or variants in this gene can lead to a reduction in the amount of functional factor XI protein, which may result in a bleeding disorder known as factor XI deficiency, sometimes historically referred to as hemophilia C.
Understanding the rs1057516738 Variant
The variant rs1057516738 is a specific change in the DNA sequence of the F11 gene. In the context of genetic testing, this variant is categorized as a marker for carrier status. Research indicates that variants in F11 can be inherited in either an autosomal recessive or an autosomal dominant pattern. While individuals with two copies of a pathogenic variant often experience more severe symptoms, those who carry only one copy—often referred to as carriers—may also exhibit reduced levels of factor XI. The clinical impact of such variants can be variable, meaning that even within the same family, individuals with the same genetic profile may experience different levels of bleeding risk.
Clinical Associations and Evidence
Scientific literature associates F11 variants with factor XI deficiency, a condition characterized by symptoms such as easy bruising, nosebleeds, and prolonged bleeding after surgery or trauma. The evidence strength for the role of F11 in these bleeding disorders is considered moderate to high in clinical genetics. However, it is important to note that the severity of bleeding does not always correlate perfectly with the measured levels of factor XI in the blood. Other genetic and environmental factors likely contribute to the overall clinical picture. Because this condition can lead to complications during medical procedures, individuals who are aware of their carrier status should discuss this information with their healthcare provider or a hematologist to ensure appropriate management.
Interpreting Your Genetic Information
Genetic information regarding variants like rs1057516738 provides insight into your potential carrier status for factor XI deficiency. It is crucial to understand that this information is not a medical diagnosis. If you have concerns about your bleeding history or are planning for surgery, you should consult with a medical professional. A doctor can order specific blood tests to measure your actual factor XI activity levels, which provides a more accurate assessment of your clotting function than genetic testing alone. Never make changes to your medical care or medication regimen based solely on a genetic report; always seek guidance from a qualified clinician or pharmacist who can interpret these results in the context of your personal health history.
How common is this variant?
The rs1057516738 variant is considered rare in the general population. Frequency can vary significantly depending on ancestral background, with some F11 variants showing higher prevalence in specific ethnic groups.
Frequently asked questions
What is factor XI deficiency?
Factor XI deficiency is a rare inherited bleeding disorder caused by low levels or impaired function of the factor XI protein. It can lead to symptoms like easy bruising, nosebleeds, and excessive bleeding after surgery or injury.
Does being a carrier mean I have a bleeding disorder?
Not necessarily. Many carriers of F11 variants have no symptoms or only very mild symptoms. However, it is important to be aware of your status, especially before undergoing any surgical or dental procedures.
How is factor XI deficiency diagnosed?
Diagnosis is typically confirmed through blood tests that measure the activity level of factor XI in your plasma. Genetic testing can identify the presence of variants, but it does not measure the actual clotting ability of your blood.
Should I be worried if I have this variant?
There is no need for alarm, but you should be informed. Discuss your genetic report with your primary care physician or a hematologist, who can help you understand what this means for your health and whether any precautions are necessary.
Sources & further reading
Educational information only, last refreshed 10/10/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the F11 gene is associated with hereditary factor XI deficiency, a condition that can lead to bleeding disorders.
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.
This variant is associated with Factor XI deficiency, an autosomal recessive bleeding disorder.
This variant, also known as p.Arg497Ter, is a significant mutation associated with Factor XI deficiency.
This variant is associated with carrier status for Factor XI deficiency, which can impact blood coagulation.