F11 rs747702749: Understanding Hereditary Factor XI Deficiency
The rs747702749 variant is a genetic change located in the F11 gene, which provides instructions for making coagulation factor XI. 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 activity
This is the most common genotype and is considered the typical or reference sequence for the F11 gene. Individuals with this genotype are not expected to have the specific hereditary factor XI deficiency associated with this variant.
This is the most common genotype observed in the general population.
Carrier of factor XI mutation
You carry one copy of the variant associated with hereditary factor XI deficiency. While this condition is typically inherited in an autosomal recessive pattern, carriers may sometimes show partial deficiency or reduced factor XI levels, which can be relevant in surgical or trauma settings.
This genotype is rare in the general population.
Increased risk of deficiency
You carry two copies of the variant associated with hereditary factor XI deficiency, also known as hemophilia C. This genotype is linked to reduced levels and activity of factor XI, which may result in a tendency for abnormal bleeding, particularly following surgery or injury.
This genotype is very rare in the general population.
What is the rs747702749 Variant?
The rs747702749 variant is a specific single nucleotide polymorphism (SNP) found within the F11 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is located on chromosome 4 at position 186,276,365 (GRCh38). Because the F11 gene is responsible for producing a protein essential for blood coagulation, changes in its sequence can potentially alter the function or production of this protein. Researchers track these variants to understand how they contribute to health conditions, particularly those involving bleeding disorders. While many variants in the human genome are benign, rs747702749 has been identified in clinical databases as having a potential link to hereditary factor XI deficiency, making it a subject of interest for those studying hematological health and genetic predispositions.
The Role of the F11 Gene
The F11 gene encodes the coagulation factor XI protein, which is a vital component of the blood clotting cascade. When a blood vessel is injured, a series of chemical reactions occurs to form a clot and stop bleeding; factor XI plays a key role in the middle phase of this intrinsic pathway by activating factor IX. When the F11 gene contains pathogenic variants, the body may produce insufficient or dysfunctional factor XI. This can lead to a condition known as hereditary factor XI deficiency, also historically referred to as Rosenthal syndrome. Individuals with this deficiency may experience a range of symptoms, including easy bruising, nosebleeds, or prolonged bleeding after surgery or injury. Because the clotting process is complex, the severity of symptoms can vary significantly between individuals, even among those who carry the same genetic variant.
Research and Clinical Evidence
Evidence linking rs747702749 to hereditary factor XI deficiency is categorized as moderate. Clinical databases, such as ClinVar, have flagged this variant as potentially pathogenic, meaning it is suspected of contributing to the development of the deficiency. Research indicates that individuals who are homozygous (carrying two copies of the variant) or compound heterozygous (carrying different variants on each chromosome) are at a higher risk for clinical symptoms of factor XI deficiency. It is important to note that the presence of a variant does not guarantee a specific health outcome. Many factors, including other genetic modifiers and environmental influences, play a role in how a person's body functions. Because the evidence is evolving, researchers continue to study how this specific SNP impacts protein levels and clinical bleeding risks in diverse populations.
Population Frequency
The rs747702749 variant is considered rare in the general population. While specific frequency data can vary by database and ancestry, it is not a common variant found in the majority of individuals. Hereditary factor XI deficiency itself is a rare condition globally, though it is known to be more prevalent in certain populations, such as individuals of Ashkenazi Jewish descent. Because this variant is rare, large-scale population studies are still gathering data to better understand its distribution across different ethnic groups. The rarity of the variant means that much of the current knowledge is derived from clinical case reports rather than broad population-wide screenings. As more genetic data becomes available through global research initiatives, our understanding of the frequency and impact of this variant will likely become more precise.
Managing Genetic Information
If you have received information about your status regarding the rs747702749 variant, it is important to approach it with a clear understanding of its limitations. Genetic testing results are not a medical diagnosis and should not be used to make personal health decisions without professional guidance. If you are concerned about bleeding tendencies or have a family history of clotting disorders, consult with a healthcare provider or a genetic counselor. They can help interpret your results in the context of your overall health, family history, and clinical symptoms. Never attempt to diagnose yourself or alter any medical treatments based on genetic data alone. A clinician can determine if further testing, such as measuring actual factor XI protein levels in your blood, is necessary to provide an accurate assessment of your health.
How common is this variant?
The rs747702749 variant is rare in the general population, though hereditary factor XI deficiency is more common in specific ancestral groups such as Ashkenazi Jews.
Frequently asked questions
What is factor XI deficiency?
Factor XI deficiency is a rare, inherited bleeding disorder caused by low levels or dysfunction of the factor XI protein. It can lead to prolonged bleeding after injuries or surgeries.
Does having the rs747702749 variant mean I have a bleeding disorder?
Not necessarily. Genetic variants are just one piece of the puzzle, and many people with certain variants may never experience significant clinical symptoms. A diagnosis requires clinical evaluation by a doctor.
Should I get tested for this variant?
Genetic testing is typically recommended only if you have a personal or family history of unexplained bleeding. You should discuss the necessity of such tests with a healthcare professional.
How is factor XI deficiency treated?
Treatment depends on the severity of the deficiency and the individual's clinical needs. Management is determined by a hematologist and may include precautions before surgery or specific therapies if bleeding occurs.
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 results and their implications.
Sources & further reading
Educational information only, last refreshed 10/5/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.
This variant is linked to hereditary factor XI deficiency, with homozygous status indicating the disease state.
This variant is associated with carrier status for hereditary Factor XI deficiency.