F11 rs1057517171: Understanding Hereditary Factor XI Deficiency
The genetic variant rs1057517171 is a deletion located within the F11 gene. This variant is associated with hereditary factor XI deficiency, a condition that can lead to an increased risk of bleeding.
What each genotype means
Typical factor XI levels
This genotype represents the reference sequence for the F11 gene at this location. It is associated with normal production of factor XI protein, which is essential for the blood clotting process.
This is the most common genotype found in the general population.
Factor XI deficiency carrier
This genotype indicates you carry one copy of a deletion variant in the F11 gene. Carriers typically do not experience significant bleeding symptoms, but you should be aware of your status if you are planning for family or undergoing surgery.
This genotype is rare in the general population.
What is the rs1057517171 Variant?
The variant rs1057517171 is a specific genetic alteration characterized as a deletion. In genetic databases, it is often represented as a deletion of the sequence TCTGTGC. It is situated on chromosome 4 within the F11 gene, which provides instructions for producing the coagulation factor XI protein. Because this variant involves the removal of genetic material, it can disrupt the normal reading frame or function of the gene, potentially leading to a reduction in the amount of functional protein produced or the creation of a non-functional protein. Geneticists track such variants to understand how they contribute to inherited traits and health conditions.
The Role of the F11 Gene
The F11 gene is essential for the body's blood clotting process. It encodes coagulation factor XI, a protein that plays a critical role in the intrinsic pathway of the coagulation cascade. When a blood vessel is injured, factor XI is activated to help form a stable blood clot, which prevents excessive bleeding. Mutations in the F11 gene can result in factor XI deficiency, a condition where the blood does not clot as efficiently as it should. While this deficiency is often mild, it can lead to symptoms such as easy bruising, nosebleeds, or prolonged bleeding following surgery, dental procedures, or significant trauma.
Research and Clinical Associations
Research has linked variants in the F11 gene, including deletions like rs1057517171, to hereditary factor XI deficiency. Clinical evidence suggests that individuals who inherit these variants may experience reduced levels of factor XI in their plasma. The strength of the association between F11 mutations and factor XI deficiency is considered strong in the medical community, as the gene is a known driver of this specific bleeding disorder. However, the clinical presentation can be highly variable; some individuals with these genetic changes may remain asymptomatic, while others may show clear signs of a bleeding tendency. Because the molecular basis of this deficiency is heterogeneous, researchers continue to study how different variants interact with other genetic and environmental factors to influence bleeding risk.
Population Frequency
Hereditary factor XI deficiency is a rare condition, estimated to affect approximately 1 in 1 million people worldwide. Because the condition is rare, specific variants like rs1057517171 are also typically found at very low frequencies in the general population. Genetic studies often observe that carrier frequencies for F11 mutations can vary significantly depending on ethnic background and geographic ancestry. It is important to note that while some F11 variants are well-documented as founder mutations in specific populations, the prevalence of this particular deletion remains limited in large-scale genomic datasets.
Managing Genetic Information
Understanding your genetic profile regarding the F11 gene can provide insights into your potential risk for bleeding disorders. However, it is crucial to recognize that the presence of a variant does not guarantee the development of clinical symptoms. If you have concerns about your bleeding history or genetic results, you should consult with a healthcare professional or a genetic counselor. They can help interpret these findings in the context of your personal and family medical history. Never use genetic information to self-diagnose or alter medical treatments. Always discuss any concerns regarding medication, surgery, or bleeding risks with your clinician or pharmacist, as they are best equipped to provide personalized medical guidance.
How common is this variant?
The rs1057517171 variant is considered rare in the general population, with its frequency varying 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 of the factor XI protein, which can lead to prolonged bleeding after surgery or injury.
Is rs1057517171 dangerous?
The variant is associated with a bleeding disorder, but the severity of symptoms varies greatly between individuals. Many people with F11 variants may have only mild symptoms or none at all.
Should I be tested for this variant?
Genetic testing is typically recommended by a doctor if you have a personal or family history of unexplained bleeding. You should discuss the necessity of testing with a healthcare provider or genetic counselor.
Can I prevent factor XI deficiency?
Because this is a genetic condition, it cannot be prevented. However, individuals diagnosed with the deficiency can work with hematologists to manage bleeding risks during surgeries or medical procedures.
Sources & further reading
Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.
This variant is associated with Factor XI deficiency, an autosomal recessive bleeding disorder.