COL11A1 rs61751239: Understanding This Genetic Variant
The rs61751239 variant is a specific change within the COL11A1 gene that has been identified in individuals with type II Stickler syndrome. This condition is a connective tissue disorder characterized by ocular, auditory, and skeletal manifestations.
What each genotype means
Typical collagen structure
This genotype represents the common, non-variant form of the COL11A1 gene at this position. Individuals with this genotype do not carry the specific pathogenic substitution associated with Stickler syndrome type II at this site.
This is the most common genotype, found in the vast majority of the global population.
Potential Stickler syndrome association
This genotype indicates the presence of a rare variant in the COL11A1 gene, which has been associated with type II Stickler syndrome. This condition is a connective tissue disorder that can involve high myopia, vitreoretinal degeneration, and retinal detachment; however, clinical expression can be variable. Please consult with a medical geneticist or healthcare provider to discuss these findings in the context of your personal and family health history.
This specific genotype is extremely rare, with an allele frequency reported at less than 0.00001 in large population databases like gnomAD.
Rare variant homozygous
This genotype indicates that both copies of the COL11A1 gene carry this rare variant. Given the association of this variant with Stickler syndrome, individuals with this genotype may have a higher likelihood of manifesting clinical features such as ocular or connective tissue abnormalities. Clinical correlation with a specialist is strongly recommended to understand the implications for your health.
This genotype is exceptionally rare and has not been significantly documented in general population cohorts.
What is the rs61751239 Variant?
The rs61751239 variant is a single nucleotide polymorphism (SNP) located within the COL11A1 gene. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is categorized as a pathogenic substitution, meaning it involves a change in the genetic code that can alter the resulting protein's structure or function. Because this variant is associated with a rare, inherited condition, it is typically studied in clinical settings where researchers look for links between specific DNA changes and observed physical traits. It is important to note that the presence of a variant does not automatically guarantee the development of a condition, as genetic expression can be influenced by many factors, including other genes and environmental interactions.
The Role of the COL11A1 Gene
The COL11A1 gene provides instructions for making one component of type XI collagen. Collagen is a complex protein that acts as a structural scaffold, providing strength and support to connective tissues throughout the body, including cartilage, the vitreous humor of the eye, and the inner ear. When the COL11A1 gene contains a pathogenic variant, the resulting collagen fibers may be malformed or produced in insufficient quantities. This disruption in the structural integrity of connective tissues leads to the clinical features associated with type II Stickler syndrome. Because type XI collagen is essential for the development and maintenance of various tissues, mutations in this gene can have widespread effects, particularly in areas where this specific type of collagen is most abundant, such as the eyes and joints.
Research and Clinical Associations
Scientific research has linked pathogenic variants in COL11A1 to type II Stickler syndrome, a condition marked by high myopia, vitreoretinal degeneration, and an increased risk of retinal detachment. Clinical evidence suggests that individuals with these variants may also experience hearing loss and joint issues. The evidence strength for this specific variant's role in the syndrome is considered limited in some databases, reflecting the rarity of the condition and the complexity of genetic diagnosis. It is essential to understand that Stickler syndrome is genetically heterogeneous, meaning it can be caused by mutations in several different genes, including COL2A1 and COL11A2. Because of this, clinical diagnosis relies on a combination of genetic testing and a thorough evaluation of physical symptoms by medical professionals. Research continues to evolve as more data is collected through large-scale genomic studies.
Population Frequency
The rs61751239 variant is extremely rare in the general population. According to data from the Genome Aggregation Database (gnomAD), the allele frequency for this variant is less than 0.00001. This low frequency is consistent with its classification as a pathogenic variant associated with a rare genetic disorder. Because it is so uncommon, it is not typically found in the general population and is primarily identified in clinical cohorts where individuals are being tested for specific symptoms related to connective tissue disorders. The rarity of this variant underscores the importance of specialized genetic counseling for families who may be affected, as the inheritance patterns and clinical implications are highly specific to the individual's genetic background and family history.
Navigating Genetic Information
If you or a family member have received information about this variant, it is important to approach it with the guidance of a qualified healthcare provider or a genetic counselor. Genetic information can be complex, and a professional can help interpret what these results mean in the context of your personal health history. You cannot use this information to self-diagnose or predict health outcomes without clinical context. If you are concerned about symptoms related to vision, hearing, or joint health, consult a specialist who can perform the necessary clinical examinations. Genetic testing is a tool that provides data, but it is only one part of a comprehensive medical evaluation. Always discuss any findings with your clinician to determine the appropriate next steps for your health and well-being.
How common is this variant?
The rs61751239 variant is extremely rare, with a reported allele frequency of less than 0.00001 in the gnomAD database.
Frequently asked questions
What is Stickler syndrome?
Stickler syndrome is a group of genetic disorders that affect connective tissue, particularly the collagen. It can cause problems with vision, hearing, and joint function.
Is rs61751239 a common genetic variant?
No, this variant is very rare. It is not commonly found in the general population and is primarily associated with specific clinical cases.
Can I use this information to diagnose myself?
No. Genetic variants must be interpreted by a medical professional in the context of your physical symptoms and family history. Please consult a doctor for any health concerns.
How is Stickler syndrome inherited?
Stickler syndrome caused by COL11A1 variants is typically inherited in an autosomal dominant pattern. This means that inheriting one copy of the altered gene from one parent is sufficient to cause the condition.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the type XI collagen alpha 1 gene is strongly associated with susceptibility to primary angle-closure glaucoma.
Significantly associated with increased risk of lumbar disc herniation and intervertebral disc degeneration.
Intronic collagen gene polymorphism associated with corneal curvature variation and susceptibility to severe myopia.
Identified as a critical pleiotropic lead regulatory variant conferring susceptibility to shared age-related ocular phenotypes and axial length variation.