F11 rs1057517035: Understanding Factor XI Deficiency Variants
The rs1057517035 variant is a specific genetic alteration located within the F11 gene. It is associated with hereditary factor XI deficiency, a condition that can impact the body's ability to form blood clots effectively.
What each genotype means
Typical factor XI levels
This genotype represents the most common genetic sequence at this position in the F11 gene. Individuals with this profile are not expected to have genetic predisposition to hereditary factor XI deficiency based on this specific variant.
This is the most common genotype observed in the general population.
Carrier of factor XI mutation
This genotype indicates you are a carrier of a variant associated with hereditary factor XI deficiency. Carriers typically do not exhibit significant bleeding symptoms, though they may have lower plasma factor XI levels compared to non-carriers; you should discuss any concerns regarding surgery or trauma with your clinician.
This genotype is rare in the general population, though carrier frequencies can vary significantly by ancestry.
Hereditary factor XI deficiency
This genotype is associated with hereditary factor XI deficiency, a condition that can lead to reduced blood clotting ability and potential bleeding disorders. Individuals with this profile should consult with a hematologist or healthcare provider, as certain medications like NSAIDs or aspirin may be contraindicated due to their effect on platelet function.
This genotype is very rare in the general population.
Understanding the rs1057517035 Variant
The rs1057517035 variant is a specific change in the DNA sequence of the F11 gene, which is located on the long arm of chromosome 4. In genetic databases, this variant is identified by its rsID, a unique reference number used by researchers to track specific locations in the human genome. This particular variant involves a substitution where a cytosine (C) is replaced by a thymine (T). Because the F11 gene provides instructions for creating a vital protein involved in the coagulation cascade, changes at this location can potentially alter the structure or function of the resulting protein. Geneticists study these variants to understand how they contribute to variations in human health, particularly regarding blood clotting disorders. It is important to note that while this variant is documented in clinical databases, its presence does not automatically guarantee a specific health outcome, as many factors influence how genes express themselves in the body.
The Role of the F11 Gene
The F11 gene is responsible for producing a protein called coagulation factor XI. This protein plays a critical role in the intrinsic pathway of the blood coagulation cascade, which is the body's complex process for forming stable blood clots to stop bleeding after an injury. Once activated, factor XI helps trigger the subsequent steps that lead to the formation of a fibrin clot. When the F11 gene contains mutations or variants that disrupt the production or function of this protein, it can lead to factor XI deficiency. This condition, sometimes historically referred to as hemophilia C, is characterized by reduced levels of functional factor XI in the blood. Because this protein is essential for the middle phase of blood clotting, individuals with significant deficiencies may experience prolonged bleeding following trauma, surgery, or other medical procedures. The severity of the condition often correlates with the amount of functional factor XI present in the plasma.
Research and Clinical Associations
Research into the F11 gene has identified numerous variants associated with factor XI deficiency. The rs1057517035 variant is categorized in clinical databases as having potential pathogenic significance regarding this condition. Scientific studies, including those found in the ClinVar database, link this variant to hereditary factor XI deficiency. The evidence strength for this association is generally considered moderate, meaning that while there is a clear link between the variant and the condition, ongoing research continues to refine our understanding of its clinical impact. It is important to distinguish between being a carrier of a variant and having a clinical diagnosis of a deficiency. Clinical diagnosis typically involves measuring the actual activity levels of factor XI in the blood, as genetic findings alone are not a substitute for a formal medical evaluation. Researchers continue to study how different F11 variants interact with other genetic and environmental factors to influence bleeding risk.
Population Frequency and Distribution
Factor XI deficiency is considered a rare condition in the general population, with an estimated global prevalence of approximately one in one million individuals. However, the frequency of specific F11 variants can vary significantly depending on ancestral background. For example, certain founder mutations in the F11 gene are much more common in the Ashkenazi Jewish population, where the carrier frequency is significantly higher than in the general public. The rs1057517035 variant itself is documented as rare. Because genetic diversity is high across different human populations, the prevalence of this specific variant may be higher in some groups and virtually absent in others. Large-scale genomic databases like gnomAD are essential for researchers to determine the true frequency of such variants across diverse ancestries, helping to provide context for how common or rare a specific genetic change truly is within the global human population.
Interpreting Your Genetic Information
If you have received information about your status for the rs1057517035 variant, it is important to approach this data with the guidance of a qualified healthcare professional. Genetic testing results can be complex, and the presence of a variant does not necessarily mean you will experience symptoms of a bleeding disorder. Many people carry genetic variants without ever developing clinical issues. If you are concerned about your risk for bleeding or have a family history of clotting disorders, consult with a doctor or a genetic counselor. They can help interpret your results in the context of your personal and family medical history. Never use genetic information to make independent medical decisions or to diagnose yourself. If you are prescribed medications that affect blood clotting, always discuss your genetic profile with your clinician or pharmacist, as they can provide personalized advice regarding your care and potential treatment options.
How common is this variant?
The rs1057517035 variant is considered rare in the general population, though specific F11 variants show significant variation in frequency across different ancestral groups.
Frequently asked questions
What is factor XI deficiency?
Factor XI deficiency is an inherited bleeding disorder caused by low levels of the factor XI protein. This protein is essential for the blood clotting process, and its absence can lead to increased bleeding after injuries or surgeries.
Does having this variant mean I have a bleeding disorder?
Not necessarily. Genetic variants are just one piece of the puzzle, and clinical diagnosis requires measuring actual factor XI activity levels in your blood. You should discuss your results with a healthcare provider to understand your specific health context.
How is factor XI deficiency inherited?
Factor XI deficiency is typically inherited in an autosomal pattern. This means that both males and females can be affected, and the condition can be passed down from one or both parents.
What should I do if I am a carrier?
Being a carrier generally means you have one copy of a variant. It is recommended to share this information with your doctor, especially before any planned surgeries or medical procedures, so they can manage your care appropriately.
Where can I find a genetic counselor?
In the United States, you can find a qualified genetic counselor through the National Society of Genetic Counselors website. They can help you understand your genetic test results and what they mean for your health.
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 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.
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.