F11 rs768474112: Understanding Factor XI Deficiency Risk
The rs768474112 variant is a genetic change located within the F11 gene, which provides instructions for making a protein essential for blood clotting. This variant is associated with Factor XI deficiency, an inherited condition that can lead to abnormal bleeding.
What each genotype means
Typical factor XI levels
This genotype represents the common, non-variant form of the F11 gene at this position. Individuals with this profile are not expected to have the specific genetic risk for factor XI deficiency associated with this variant.
This is the most common genotype observed in the general population.
Factor XI deficiency carrier
This genotype indicates you carry one copy of the variant associated with factor XI deficiency. While typically asymptomatic, carriers may have lower levels of factor XI protein, and you should discuss your status with a healthcare provider, especially before any planned surgeries or dental procedures.
This genotype is rare in the general population, though carrier frequencies can vary significantly by ancestry.
Increased risk for deficiency
This genotype indicates you carry two copies of the variant associated with factor XI deficiency, a condition that can lead to abnormal bleeding. You should consult with a hematologist or your primary care physician to discuss potential clinical implications and appropriate management strategies.
This genotype is very rare in the general population.
What is the rs768474112 Variant?
The rs768474112 variant is a specific change in the DNA sequence of the F11 gene, which is located on chromosome 4. In genetics, a variant like this is a single-nucleotide change that can potentially alter the function of the protein the gene encodes. This particular variant is cataloged in scientific databases as being linked to Factor XI deficiency. Because the F11 gene is responsible for producing coagulation factor XI, any significant change in its sequence may impact the body's ability to form stable blood clots. Researchers track these variants to understand how they contribute to bleeding disorders. It is important to note that the presence of a variant does not automatically mean an individual will experience severe symptoms, as the clinical impact often depends on whether the variant is inherited from one or both parents.
The Role of the F11 Gene
The F11 gene encodes coagulation factor XI, a protein that plays a critical role in the blood coagulation cascade. This protein circulates in the blood as a zymogen, an inactive precursor that is activated during the process of blood clotting. Once activated, factor XI helps trigger the middle phase of the intrinsic pathway of coagulation, which ultimately leads to the production of thrombin and the formation of a stable blood clot. When the F11 gene contains mutations or variants that disrupt the production or function of this protein, the clotting process can be impaired. This condition is known as Factor XI deficiency, or sometimes Rosenthal syndrome. Individuals with this deficiency may experience prolonged bleeding after injuries, surgeries, or dental procedures, although the severity of bleeding can vary widely between individuals.
Research and Clinical Evidence
Scientific research has established a clear association between variants in the F11 gene and Factor XI deficiency. The evidence for this association is considered moderate to strong in the context of clinical genetics. Studies have shown that individuals who inherit two copies of a pathogenic F11 variant (homozygotes) or two different variants (compound heterozygotes) are at the highest risk for significant deficiency and associated bleeding symptoms. Heterozygotes, who carry only one copy of a variant, may have partial deficiency but often remain asymptomatic or experience only mild bleeding. Because Factor XI deficiency is an autosomal recessive disorder, the clinical presentation is highly dependent on the specific combination of alleles an individual carries. Researchers continue to study these variants to better predict bleeding risks and improve clinical management for affected families.
Population Frequency and Distribution
The rs768474112 variant is classified as rare in the general population. Genetic studies, such as those referenced in the OMIM database, indicate that while carrier frequencies for various F11 mutations can vary significantly by ethnicity, this specific variant is not common. For example, certain F11 mutations are well-documented as founder mutations in Ashkenazi Jewish populations, where they occur at higher frequencies than in the general global population. However, for rare variants like rs768474112, the frequency is typically very low across most ancestral groups. Because it is rare, most individuals will not carry this specific variant. Large-scale genomic databases like gnomAD are often used by researchers to determine the exact frequency of such variants across diverse populations, helping to distinguish between common genetic diversity and rare, potentially pathogenic mutations.
Managing Genetic Information
If you have received information about your status regarding the rs768474112 variant, it is important to understand what this means in a clinical context. This information is for educational purposes and does not constitute a medical diagnosis. Genetic variants are only one piece of the puzzle; clinical symptoms, family history, and blood clotting tests are essential for a complete medical assessment. If you are concerned about bleeding tendencies or your carrier status, you should consult with a healthcare provider or a certified genetic counselor. They can help interpret your results, discuss the implications for your health, and explain the risks for family members. Never make changes to your medical care or assume you have a bleeding disorder based solely on a genetic report. Always discuss your findings with a qualified professional who can provide personalized guidance.
How common is this variant?
The rs768474112 variant is considered rare across most global populations, with its frequency varying significantly depending on ancestral background.
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. It can lead to prolonged bleeding after injuries or surgeries.
Is rs768474112 a dangerous mutation?
The variant is associated with a known bleeding disorder. Whether it poses a health risk depends on your specific genotype and whether you have inherited the variant from one or both parents.
Should I be worried if I am a carrier?
Being a carrier usually means you have one copy of the variant. While carriers may have lower levels of factor XI, they often do not experience significant bleeding symptoms, but you should discuss this with a doctor.
How can I get tested for Factor XI deficiency?
Testing for Factor XI deficiency typically involves blood tests to measure clotting factor activity levels. Genetic testing can also identify specific variants in the F11 gene.
Where can I find a genetic counselor?
You can find a qualified genetic counselor through the National Society of Genetic Counselors website. They can help you understand your genetic results and what they mean for your health.
Sources & further reading
Educational information only, last refreshed 9/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs768474112?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in F11
This variant is associated with hereditary Factor XI deficiency, a bleeding disorder characterized by variable clinical severity.
This deletion variant is associated with hereditary factor XI deficiency, which can lead to increased bleeding risk.
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.