NTN1 rs117797822: Understanding This Genetic Variant
The rs117797822 variant is a single-nucleotide polymorphism located within the NTN1 gene. Research has identified this variant as having a statistical association with color vision phenotypes in specific populations.
What each genotype means
Typical color vision predisposition
You have two copies of the common C allele for this variant in the NTN1 gene. Genome-wide association research has linked this background genotype with typical baseline odds for color discrimination, meaning you do not carry the statistical risk allele identified in isolate cohort studies. This finding reflects general statistical trends and does not replace a comprehensive clinical eye evaluation.
Found in more than 98% of individuals globally across most major reference populations.
Potential color discrimination variation
You carry one copy of the less common T allele at rs117797822. In exploratory genome-wide association studies of Silk Road cohorts, this variant has been statistically linked to differences in retinal wiring and altered color discrimination phenotypes. Because this association is based on specific discovery cohorts, its functional impact in broader diverse populations remains unconfirmed.
Carried by approximately 1% to 2% of individuals in global reference databases, with higher observed frequencies in specific Central Asian and Silk Road populations.
Altered color vision predisposition
You carry two copies of the rare T allele in the NTN1 gene. Individuals with this genotype carry the homozygous non-reference genotype evaluated in association studies of atypical color vision and retinal axon guidance pathways. While research suggests a statistical relationship with altered color perception, clinical manifestation varies widely and is not deterministic.
Extremely rare globally, occurring in well under 1 in 1,000 individuals across most ancestral backgrounds.
What is rs117797822?
The rs117797822 variant is a specific change in the DNA sequence, known as a single-nucleotide polymorphism (SNP), located within the NTN1 gene on chromosome 17. In genetic research, SNPs are the most common type of genetic variation among people, representing a difference in a single building block of DNA. This particular variant involves a substitution where a thymine (T) is replaced by a cytosine (C). Scientists track these variations to understand how they might influence biological traits or susceptibility to certain conditions. Because this variant is found in a region of the genome that influences the development and function of the nervous system and eye tissues, it has become a subject of interest in studies investigating visual perception and ocular health.
The Role of the NTN1 Gene
The NTN1 gene provides the instructions for producing a protein called netrin-1. This protein acts as a guidance cue for cells and axons—the long, thread-like projections of nerve cells—during the development of the nervous system. By binding to specific receptors, netrin-1 helps direct the growth of axons to their correct destinations, a process essential for proper neural connectivity. Beyond its role in the brain and spinal cord, netrin-1 is also critical for eye development. It is involved in the migration of glial cells to the retina and the growth of axons toward the optic nerve head. Because of these functions, researchers have investigated whether variations in NTN1 might affect the transmission of visual signals or the structural integrity of the eye.
Research and Evidence
The evidence linking rs117797822 to human traits is currently considered moderate. A genome-wide association study (GWAS) conducted on Silk Road populations identified this SNP as significantly associated with color vision phenotypes after statistical correction. Researchers hypothesize that because netrin-1 plays a role in retinal ganglion cells and the optic nerve, variations in the gene could potentially alter the functionality of these tissues, leading to differences in color perception. However, it is important to note that while the statistical association is strong in the studied cohorts, the biological mechanism remains a subject of ongoing investigation. Other studies have linked different, rare variants in NTN1 to structural eye conditions like coloboma, but these are distinct from the common SNP rs117797822. The current evidence suggests that while NTN1 is a promising candidate gene for visual traits, more research is needed to confirm its impact across diverse global populations.
Interpreting Your Genetic Information
If you encounter this variant in a personal genetic report, it is important to understand that genetic associations are statistical, not diagnostic. A variant like rs117797822 does not determine your vision; rather, it is one of many factors—including other genes, environmental influences, and lifestyle—that contribute to your unique biological makeup. You cannot use this information to diagnose a medical condition or predict a specific visual outcome. If you have concerns about your color vision or eye health, the most appropriate step is to consult with an eye care professional, such as an optometrist or ophthalmologist. They can perform clinical tests to assess your vision accurately. Genetic data should be viewed as a tool for scientific curiosity rather than a substitute for professional medical evaluation and care.
How common is this variant?
The rs117797822 variant is reported to have a low frequency in global reference cohorts, meaning the variant allele is relatively uncommon compared to the reference allele.
Frequently asked questions
Is rs117797822 a cause of color blindness?
No, rs117797822 is not a known cause of clinical color blindness. It has been statistically associated with color vision phenotypes in research studies, but it does not function as a diagnostic marker for color vision deficiency.
Should I be worried if I have the C allele?
No, there is no reason for concern. Genetic variants are common, and having a specific allele does not mean you have a health problem. This variant is simply a natural variation in the human genome.
Can I change my vision based on this SNP?
No, you cannot change your vision based on this genetic variant. Genetic information is fixed at birth, and there are no known lifestyle or dietary interventions that alter the effect of this specific SNP on eye development.
Where can I get my eyes tested?
If you are concerned about your vision, you should schedule an appointment with an optometrist or ophthalmologist. They can provide a comprehensive eye exam and clinical testing to evaluate your color vision and overall eye health.
Sources & further reading
Educational information only, last refreshed 10/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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