TSPAN10 rs7503894: What Your Genotype Means
The genetic variant rs7503894 is a single-nucleotide polymorphism located within the TSPAN10 gene region. Research has identified a significant statistical association between this variant and variations in retinal thickness at the central fovea, as well as various ocular and pigmentation-related traits.
What each genotype means
Typical retinal foveal thickness
This genotype is associated with standard measurements of retinal thickness at the central fovea in population studies. As this is a complex trait influenced by many genetic and environmental factors, this result does not indicate a clinical condition or specific eye health outcome.
This is the most common genotype observed across most global populations.
Varied retinal foveal thickness
Individuals with this genotype may show slight variations in central foveal retinal thickness compared to those with the AA genotype. Research indicates this variant is associated with these structural differences, though the clinical significance of such minor variations remains a subject of ongoing study.
This heterozygous genotype is found at moderate frequencies in many populations worldwide.
Associated retinal foveal thickness
This genotype is associated with specific variations in the thickness of the central fovea as identified in genome-wide association studies. These findings reflect statistical trends across large groups and do not serve as a diagnostic indicator for individual eye health or visual function.
This genotype is less common than the AA genotype but is present at varying frequencies across different ancestral groups.
Understanding the rs7503894 Variant
The variant rs7503894 is a specific change in the DNA sequence, categorized as a single-nucleotide polymorphism (SNP). It is situated on chromosome 17 within the genomic region associated with the TSPAN10 gene. In genetic research, SNPs like rs7503894 serve as markers that help scientists identify regions of the genome that may influence physical traits or susceptibility to certain conditions. Because this variant is common in many populations, it has been frequently included in large-scale genome-wide association studies (GWAS). These studies compare the DNA of thousands of individuals to determine if specific genetic markers appear more often in people who share certain physical characteristics, such as differences in eye structure or pigmentation. It is important to note that a statistical association does not imply that the variant itself causes a specific health outcome, but rather that it is linked to biological processes that may influence those traits.
The Role of TSPAN10
The TSPAN10 gene encodes a protein belonging to the tetraspanin family. Tetraspanins are a group of cell-surface proteins that typically organize other proteins into specialized membrane domains, facilitating communication between cells and their environment. While the exact biological mechanisms of TSPAN10 in the human eye are still being investigated, its presence in ocular tissues suggests it may play a role in the structural integrity or development of the retina. Research into TSPAN10 is ongoing, and while it is not currently linked to a single, well-defined disease, its association with retinal morphology—specifically the thickness of the central fovea—highlights its potential importance in ocular biology. Understanding how this gene functions at the cellular level is a key area of interest for researchers studying the genetic basis of vision and eye development.
Research Associations and Evidence
The evidence linking rs7503894 to retinal phenotypes is considered moderate to strong in the context of statistical association studies. Large-scale research, including analyses of data from the UK Biobank, has identified a highly significant correlation between this SNP and the thickness of the central fovea. Beyond retinal structure, this variant has also shown statistical associations with other ocular traits, such as the age at which an individual began wearing glasses, astigmatism, and various measurements of refractive power. Interestingly, researchers have also observed associations between this locus and pigmentation traits, including hair color. These findings suggest that the biological pathways influenced by the TSPAN10 region may have pleiotropic effects, meaning they influence multiple, seemingly unrelated physical characteristics. As with all GWAS findings, these results represent population-level trends rather than individual predictions, and further functional studies are required to fully understand the underlying biology.
Population Frequency
The rs7503894 variant is classified as a common variant, meaning it is found at a relatively high frequency across diverse human populations. Because it is common, it is frequently captured by standard genotyping arrays used in research and direct-to-consumer genetic testing. The distribution of the specific alleles (the different versions of the DNA at this position) can vary by ancestry, which is a standard observation in human genetics. Researchers often account for these ancestral differences when conducting association studies to ensure that the observed links to traits like retinal thickness are robust and not simply a result of population structure. If you are reviewing your own genetic data, you may find that you carry one of the common genotypes, which is a typical finding for a variant with this level of prevalence in the general population.
Interpreting Your Genetic Information
Information regarding genetic variants like rs7503894 is intended for educational purposes and should not be used to diagnose or treat any medical condition. While research has established a statistical link between this variant and certain eye-related traits, these associations are complex and influenced by many other genetic and environmental factors. You cannot use this information to predict your personal eye health or the likelihood of developing a specific vision-related condition. If you have concerns about your vision, retinal health, or any other aspect of your physical well-being, the most appropriate course of action is to consult with a qualified healthcare professional, such as an ophthalmologist or optometrist. They can provide clinical evaluations that are far more accurate and relevant to your individual health than any single genetic marker. Always discuss any questions about your health or genetic test results with a clinician who understands your personal medical history.
How common is this variant?
The rs7503894 variant is a common polymorphism found across diverse global populations, with its specific allele frequencies varying by ancestral background.
Frequently asked questions
Is rs7503894 associated with eye disease?
Research has linked this variant to variations in retinal thickness and other ocular traits like astigmatism. However, it is not currently classified as a diagnostic marker for any specific eye disease.
Can I use this SNP to predict my vision?
No. Genetic associations are based on population-level statistics and cannot predict individual health outcomes. Vision is influenced by a combination of many genes and environmental factors.
What does the TSPAN10 gene do?
TSPAN10 encodes a tetraspanin protein, which is involved in organizing cell-surface proteins. It is thought to play a role in cellular communication and potentially in the development of ocular tissues.
Should I be worried if I have the 'risk' allele?
There is no 'risk' allele in the sense of a disease-causing mutation. The variant is associated with normal variation in physical traits, and you should not be concerned based on this information alone.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs7503894?
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