FAM189A1 rs76802456: What Your Genotype Means
The rs76802456 variant is a specific genetic marker located within the FAM189A1 gene. Recent research has identified this SNP as having a potential association with susceptibility to retinal vein occlusion.
What each genotype means
Typical genetic profile
This is the most common genotype observed in the general population. There is no current evidence suggesting this specific configuration contributes to an increased risk of retinal vein occlusion.
This is the major allele genotype and is found in the vast majority of individuals across all global populations.
Potential susceptibility marker
Research has identified this variant as a potential genetic marker associated with susceptibility to retinal vein occlusion in specific cohorts. Because the evidence is limited and the variant is rare, this finding should be interpreted with caution and not as a diagnostic indicator of disease.
This heterozygous genotype is rare and observed at low frequencies in global population databases.
Potential susceptibility marker
This genotype represents the presence of two copies of the variant associated with retinal vein occlusion in recent studies. While this marker has been identified in research, the clinical significance remains limited and it is not a definitive predictor of vision-related health outcomes.
This homozygous variant genotype is extremely rare across all studied ancestral populations.
Understanding the rs76802456 Variant
The rs76802456 variant is a single nucleotide polymorphism (SNP) located within the FAM189A1 gene. In human genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. Scientists study these variations to understand how specific changes in the genetic code might influence biological processes or disease risk. The rs76802456 marker is currently categorized as having limited evidence regarding its clinical impact. It is important to note that the presence of a specific SNP does not guarantee the development of any condition, as most complex health traits are influenced by a combination of multiple genetic factors, environmental exposures, and lifestyle choices. Researchers use large-scale genomic studies to identify these markers, but further investigation is often required to confirm the functional role of a specific variant in human health.
The Role of FAM189A1
The FAM189A1 gene provides instructions for producing a protein whose specific biological functions are still being characterized by the scientific community. While the exact mechanisms by which FAM189A1 influences ocular health are not fully understood, researchers are actively investigating its expression patterns in various tissues, including the eye. By utilizing tools like the Human Eye Transcriptome Atlas, scientists can map where this gene is active and how it might interact with other biological pathways. Understanding the function of the gene is a critical step in determining how a variant like rs76802456 might contribute to susceptibility for certain conditions. As of now, the link between FAM189A1 and retinal health remains an area of active, ongoing research rather than a fully established clinical pathway.
Research and Evidence Strength
Current evidence linking rs76802456 to retinal vein occlusion (RVO) is considered limited. RVO is a condition where a vein in the retina becomes blocked, potentially leading to vision loss or blurriness. Recent genome-wide association studies (GWAS), such as those conducted in East Asian cohorts, have identified rs76802456 as a novel marker with suggestive statistical significance. It is essential to interpret these findings with caution; suggestive association does not imply causation. The strength of evidence for this variant is currently preliminary, meaning that while the statistical signal is notable, it has not yet been validated across diverse global populations or through extensive functional studies. Consequently, this information should be viewed as a contribution to the broader scientific understanding of retinal vascular health rather than a diagnostic tool for individuals.
Population Frequency and Interpretation
The rs76802456 variant is classified as rare in the general population. Genetic frequency can vary significantly depending on ancestral background, and rare variants are often found at different rates across distinct geographic groups. Because this SNP is rare, it is not commonly encountered in standard genetic screening panels. When interpreting data about rare variants, researchers look at allele frequencies across large databases like gnomAD to determine how often a specific change appears. Because the association with RVO was identified in a specific cohort, it is unclear if the same risk profile applies to individuals of different ancestries. Genetic research is increasingly focused on ensuring that findings are representative of diverse populations, but for many rare variants, data remains limited to the specific groups where they were first studied.
Navigating Genetic Information
If you have received information about your genotype for rs76802456, it is important to understand what this means for your health. This variant is a subject of scientific research and is not currently used in clinical practice to predict or diagnose retinal vein occlusion. You cannot use this information to make medical decisions, nor should it replace regular eye examinations by a qualified healthcare professional. If you have concerns about your vision or a family history of retinal conditions, the most effective step is to consult with an ophthalmologist or a genetic counselor. They can provide context based on your personal health history and clinical symptoms. Always discuss any genetic findings with a medical professional who can help you interpret the results within the context of your overall health and well-being.
How common is this variant?
The rs76802456 variant is considered rare across global populations, with specific frequency data varying by ancestral background.
Frequently asked questions
What is retinal vein occlusion?
Retinal vein occlusion is a condition where a vein in the retina becomes blocked, which can lead to vision loss or blurry vision. It is a common vascular disease of the eye that often requires medical management.
Does having the rs76802456 variant mean I will get an eye disease?
No. The association between this variant and retinal vein occlusion is based on statistical research and is not a diagnostic indicator. Most people with this variant will not develop the condition.
Where can I find more information about FAM189A1?
You can search for the gene name on resources like the NCBI Gene database or MedlinePlus Genetics. These sites provide detailed information on gene function and known associations.
Should I be worried about my rs76802456 genotype?
There is no reason for concern based on this variant alone. If you have specific concerns about your eye health, you should schedule an appointment with an eye care professional.
Sources & further reading
Educational information only, last refreshed 10/10/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs76802456?
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 — $29