F11 rs1057517204: Understanding Carrier Status for Factor XI Deficiency
The rs1057517204 variant is a specific genetic change located within the F11 gene. It is associated with carrier status for hereditary factor XI deficiency, a condition that can affect the body's ability to form blood clots.
What each genotype means
Factor XI deficiency
This genotype is associated with hereditary factor XI deficiency, a condition that can lead to reduced blood clotting ability. Individuals with this genotype may experience symptoms related to bleeding disorders and should consult with a healthcare professional or genetic counselor to discuss clinical implications.
This specific genotype is rare in the general population.
Carrier of factor XI mutation
This genotype indicates you are a carrier of a variant linked to hereditary factor XI deficiency. While carriers typically do not exhibit severe symptoms, they may have partial or mild deficiency in factor XI levels; please discuss any concerns regarding bleeding risks or surgical planning with your clinician.
This genotype is rare in the general population, though carrier frequencies can vary significantly by ancestry.
Typical risk profile
This genotype represents the common or reference state for this position in the F11 gene. It is not associated with the hereditary factor XI deficiency linked to the variant allele.
This is the most common genotype observed in the general population.
What is the rs1057517204 Variant?
The rs1057517204 variant is a specific alteration in the DNA sequence of the F11 gene. In genomics, an rsID (reference SNP cluster ID) like rs1057517204 acts as a unique identifier for a specific location in the human genome where a single nucleotide polymorphism (SNP) has been identified. This variant sits on chromosome 4, which is the home of the F11 gene. When researchers study this variant, they are looking at how this specific change in the genetic code might influence the production or function of the protein encoded by the F11 gene. Because this variant is categorized as being linked to carrier status, it is primarily studied in the context of how it is passed down through families and its potential to contribute to a bleeding disorder when inherited in specific combinations.
The Role of the F11 Gene
The F11 gene provides the instructions for the body to create a protein called coagulation factor XI. This protein plays a critical role in the complex process of blood coagulation, or clotting. When you are injured, your body initiates a cascade of events to stop bleeding, and factor XI is a key component in this chain reaction. If the F11 gene contains mutations that reduce the amount of functional factor XI protein, the blood may take longer to clot than normal. This can lead to a condition known as factor XI deficiency, sometimes historically referred to as hemophilia C. While many people with this deficiency may be asymptomatic, others might experience mild to moderate bleeding issues, particularly after surgical procedures, dental work, or significant trauma.
Research and Clinical Evidence
Scientific research has established a clear link between mutations in the F11 gene and hereditary factor XI deficiency. The evidence for variants in this gene is generally considered robust, as the gene's function in the coagulation cascade is well-understood. Studies have shown that the clinical presentation of factor XI deficiency is highly heterogeneous, meaning it can vary significantly from person to person. Some individuals with F11 variants may never experience symptoms, while others may have a higher risk of bleeding. It is important to note that the presence of a variant does not guarantee a specific health outcome. Clinical evidence often highlights that bleeding symptoms are typically mild and often only manifest during specific hemostatic challenges, such as surgery, rather than through spontaneous bleeding.
Population Frequency
The rs1057517204 variant is classified as rare in the general population. Genetic frequency can vary significantly depending on ancestral background, as certain F11 mutations have been identified as founder mutations in specific ethnic groups, such as the Ashkenazi Jewish population. Because this variant is rare, it is not commonly found in the general public, and large-scale population databases often show low minor allele frequencies for such specific F11 mutations. Understanding the frequency of a variant helps researchers determine its impact on public health and the likelihood of an individual being a carrier.
What This Information Means for You
Learning about your carrier status for a genetic variant can be informative, but it is essential to interpret this information within the right context. Being a carrier for a recessive condition like factor XI deficiency generally means you have one copy of a variant allele and one typical allele, which often does not result in significant health issues. However, if you are concerned about your bleeding risk or family history, this information should be discussed with a qualified healthcare professional or a genetic counselor. They can provide personalized guidance based on your full clinical picture. Never use genetic test results to make independent medical decisions. If you are prescribed medication or are planning a surgical procedure, always inform your clinician about your genetic status so they can provide appropriate care.
How common is this variant?
The rs1057517204 variant is considered rare in the general population, though frequency can vary significantly across different ancestral groups.
Frequently asked questions
What is factor XI deficiency?
Factor XI deficiency is a rare, inherited bleeding disorder caused by mutations in the F11 gene. It results in reduced levels or impaired function of the factor XI protein, which is necessary for normal blood clotting.
Does being a carrier mean I have a bleeding disorder?
Generally, being a carrier for a recessive condition means you have one copy of a variant and one typical copy of the gene. Carriers typically do not experience significant bleeding symptoms, but you should consult a doctor to understand your specific risk.
How is factor XI deficiency diagnosed?
Diagnosis typically involves blood tests to measure the level and activity of factor XI in your plasma. Genetic testing can also identify specific mutations in the F11 gene.
Should I be worried if I have this variant?
Genetic variants are common, and many people carry them without experiencing health issues. If you have concerns, discuss your results with a healthcare provider who can interpret them in the context of your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 10/11/2026. 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 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.