AGBL1 rs17647114: Understanding the Genetic Context
The rs17647114 variant is a single-nucleotide polymorphism located within the AGBL1 gene. While early research linked this gene to Fuchs corneal dystrophy (FCD) through protein interactions with TCF4, recent studies have questioned its direct pathogenic role.
What each genotype means
Typical side effect risk
You carry two copies of the common C allele at rs17647114 in the AGBL1 gene. In psychiatric pharmacogenomic studies, this genotype has not been associated with altered rates of antidepressant-related side effects compared to baseline population levels. Because pharmacogenomic evidence for this variant is limited and exploratory, always consult your physician or pharmacist before making any changes to your medication regimen.
Found in approximately 94% of individuals globally, representing the vast majority of all ancestral populations.
Altered side effect susceptibility
You have one copy of the uncommon T allele and one copy of the common C allele at rs17647114. Preliminary genome-wide association research has suggested a possible link between carrying this minor allele and treatment-emergent side effects during antidepressant therapy; however, the clinical evidence remains limited and has not been translated into dosing guidelines. Please discuss any medication tolerance or adverse effects with your prescribing clinician or pharmacist.
Carried by approximately 5% to 6% of individuals across global populations in gnomAD.
Altered side effect susceptibility
You carry two copies of the rare T allele at rs17647114. While initial pharmacogenomic studies suggest an association with antidepressant-induced adverse effects, this finding has limited validation and lacks definitive clinical consensus. It is essential to discuss your specific antidepressant dosing and side effect profile with a healthcare provider or pharmacist rather than adjusting treatment independently.
Extremely rare, found in less than 0.2% of individuals worldwide.
What is rs17647114?
The variant rs17647114 is a specific change in the DNA sequence located within the AGBL1 gene, which sits on chromosome 15q25.3. In genomics, a single-nucleotide polymorphism (SNP) like this represents a variation at a single position in the DNA building blocks. Researchers track these variants to understand how they might influence biological processes or disease susceptibility. While rs17647114 has been cataloged in genetic databases, it is important to recognize that the presence of a variant does not automatically imply a health impact. Geneticists analyze these markers to see if they correlate with specific traits or conditions, but the significance of any single SNP often depends on the broader genetic context and environmental factors. For rs17647114, the scientific community continues to evaluate its relevance, particularly as new data from large-scale population studies become available to refine our understanding of its potential effects.
The Role of the AGBL1 Gene
The AGBL1 gene encodes a protein known as a cytosolic carboxypeptidase. Historically, this gene gained attention in the context of Fuchs endothelial corneal dystrophy (FCD), a condition affecting the inner layer of the cornea. Early research suggested that AGBL1 might interact with TCF4, another gene strongly associated with FCD, and that variations in AGBL1 could disrupt this interaction. However, more recent investigations have challenged this model. Some studies have reported that AGBL1 transcripts are not expressed in the corneal endothelium, which is the primary tissue affected by FCD. This discrepancy between early findings and later transcriptomic data has led to a re-evaluation of the gene's role. Consequently, while AGBL1 remains a subject of interest in molecular biology, its status as a primary driver of corneal disease is currently considered uncertain by many researchers in the field.
Evidence and Scientific Consensus
The evidence linking rs17647114 and other AGBL1 variants to disease is currently classified as limited or conflicting. While initial studies identified these variants in families with FCD, subsequent systematic reviews have noted that many variants previously labeled as pathogenic do not meet modern criteria for causality. For instance, some variants are found at frequencies in the general population that are inconsistent with a rare, highly penetrant disease. Furthermore, the lack of clear functional evidence in corneal tissue has led clinical databases to often classify such variants as having uncertain significance. This means that there is not enough evidence to definitively state that the variant causes a specific condition. Science is an iterative process, and as researchers apply more rigorous standards and larger datasets, our understanding of these genetic markers often shifts from initial associations to more nuanced, evidence-based conclusions.
Navigating Genetic Information
If you have received information about your genotype for rs17647114, it is important to approach it with perspective. Genetic variants are common, and most do not have a direct, predictable impact on your health. Because the evidence regarding AGBL1 is currently inconclusive and lacks clinical validation, this information should not be used to make medical decisions or predictions about your future health. If you are concerned about corneal health or any other medical condition, the most reliable path is to consult with a qualified healthcare professional, such as an ophthalmologist or a genetic counselor. They can provide context based on your personal and family medical history, which is far more informative than a single genetic marker. Always discuss any questions about your health or potential medication responses with your clinician or pharmacist, as they are best equipped to interpret your results within the context of your overall care.
How common is this variant?
The minor allele frequency for this variant is approximately 0.0025 in European American populations, making it a rare variant globally.
Frequently asked questions
Is rs17647114 a cause of Fuchs corneal dystrophy?
Current scientific evidence is conflicting and insufficient to classify this variant as a direct cause of Fuchs corneal dystrophy. While early studies suggested an association, more recent research has questioned the role of the AGBL1 gene in this condition.
Should I be worried if I have the T allele for rs17647114?
No, there is no reason for concern. The presence of this variant is not a diagnosis, and the current scientific consensus does not support using this marker to predict health outcomes.
Can I use this information to change my medication?
No. You should never change your medication based on genetic information without consulting your doctor. Always discuss any concerns about medication response with your clinician or pharmacist.
Where can I find more information about my genetic results?
You can discuss your results with a genetic counselor or your primary care physician. They can help you interpret your genetic data in the context of your personal health history.
Sources & further reading
Educational information only, last refreshed 10/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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