STAU2 rs16938701: Understanding Your Genetic Risk Factors
The rs16938701 variant is a specific genetic change located within the STAU2 gene. Research has identified this variant as being associated with an increased risk of developing retinal vein occlusion, particularly in individuals of East Asian ancestry.
What each genotype means
Typical risk profile
This genotype represents the most common form of the STAU2 gene variant in many populations. Research suggests this version is not associated with the increased risk of retinal vein occlusion observed in other genetic profiles.
This is the most frequent genotype observed in global populations.
Potential risk association
Carrying one copy of the G allele has been identified in studies as having a suggestive association with an increased risk of retinal vein occlusion in East Asian populations. Because the evidence is limited and specific to certain ancestries, this finding should be interpreted with caution as a potential risk factor rather than a diagnostic indicator.
This genotype is considered rare in the general population, with higher prevalence noted in specific East Asian cohorts.
Elevated risk association
Individuals with two copies of the G allele may have a higher statistical association with retinal vein occlusion based on limited research in East Asian populations. This association is currently considered suggestive, and it is important to remember that genetics is only one factor in eye health; please consult with an eye care professional regarding any concerns about vision changes.
This genotype is rare across most populations, appearing most frequently in specific East Asian study groups.
What is rs16938701?
The identifier rs16938701 refers to a single-nucleotide polymorphism (SNP), which is a variation at a single position in the DNA sequence. This specific SNP is located within the STAU2 gene on chromosome 8. In genetics, SNPs are the most common type of variation among people, and they can act as biological markers that help scientists locate genes associated with specific health conditions. While the presence of a variant does not guarantee the development of a disease, it serves as a point of interest for researchers studying the genetic architecture of complex traits. The rs16938701 variant has gained attention in recent genomic studies due to its statistical link to ocular health, specifically regarding the vascular system of the eye.
The Role of the STAU2 Gene
The STAU2 gene encodes the Staufen homolog 2 protein, which is characterized by its ability to bind double-stranded RNA. While the full scope of its biological function is still being investigated, the protein is thought to play a role in RNA transport and localization within cells. Interestingly, research has indicated that STAU2 is expressed in various ocular tissues, including the retinal pigment epithelium and microglia. Some studies have suggested that STAU2 expression may influence eye morphogenesis, hinting at a potential role in the development and maintenance of eye structures. Because the retina is a highly specialized and metabolically active tissue, proteins involved in RNA regulation are essential for maintaining cellular homeostasis and responding to environmental or physiological stress.
Research and Clinical Associations
Current research, including genome-wide association studies (GWAS), has identified a significant statistical association between rs16938701 and retinal vein occlusion (RVO). RVO is a condition where a vein in the retina becomes blocked, potentially leading to vision loss or impairment. The evidence for this association is primarily derived from studies focusing on East Asian cohorts, where the variant has shown a notable correlation with the condition. It is important to note that the evidence strength for this association is currently considered limited, meaning that while the statistical signal is strong, more research is required to fully understand the underlying biological mechanisms. This variant is not a diagnostic tool; rather, it is a piece of data that contributes to our broader understanding of the genetic factors that may predispose certain populations to retinal vascular diseases.
Population Frequency
The rs16938701 variant is generally classified as rare in the broader human population. Genetic frequency can vary significantly across different ancestral groups, and the specific association with RVO has been highlighted in East Asian populations. Because the variant is rare, it is not commonly found in the general population, which makes large-scale genomic studies essential for confirming its role in disease risk. When interpreting population data, it is crucial to recognize that genetic risk is often polygenic, meaning it involves the interaction of many different variants rather than a single SNP. As genomic databases continue to grow, our understanding of how rare variants like rs16938701 distribute across global populations will become more precise, helping to refine risk assessments in the future.
Managing Your Genetic Information
If you have received information about your status for the rs16938701 variant, it is important to view this in the context of your overall health. Genetic variants are only one factor in the development of complex conditions like retinal vein occlusion, which are also influenced by age, blood pressure, and other lifestyle factors. You cannot change your genetic code, but you can focus on modifiable health behaviors, such as maintaining cardiovascular health and attending regular eye examinations. This information should never be used to self-diagnose or make medical decisions. If you are concerned about your eye health or your risk for retinal conditions, please consult with an ophthalmologist or a genetic counselor. They can provide personalized guidance based on your clinical history and family background, ensuring that you receive appropriate care and monitoring.
How common is this variant?
The rs16938701 variant is considered rare across most global populations, with specific associations to retinal vein occlusion identified primarily in East Asian cohorts.
Frequently asked questions
Does having the rs16938701 variant mean I will get retinal vein occlusion?
No, having this variant does not mean you will develop the condition. It is a statistical association found in research studies, and many other factors, including your overall health and environment, play a much larger role in your actual risk.
What should I do if I have the risk-associated genotype?
You should continue to prioritize your general eye health by scheduling regular comprehensive eye exams with an eye care professional. There is no specific action required for this variant, but maintaining good cardiovascular health is generally beneficial for retinal vascular health.
Is this variant used for medical diagnosis?
No, this variant is not used for clinical diagnosis. It is a research finding that helps scientists understand the genetic basis of eye diseases, but it is not a standard diagnostic test for retinal vein occlusion.
Where can I find more information about my specific genetic results?
If you have received genetic testing results, you should discuss them with a qualified genetic counselor or your primary healthcare provider. They can help you interpret the information in the context of your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 10/10/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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