TNKS rs28634186: Understanding Your Genetic Variant
The rs28634186 variant is a specific genetic marker located within the TNKS gene region. It has been identified in genomic meta-analyses as a locus associated with normal variation in human structural facial features.
What each genotype means
Typical genetic profile
This genotype represents the most common version of this variant found in many populations. Research indicates that this specific genetic location is associated with variations in epilepsy risk, though the overall impact of this individual variant remains modest. It is important to remember that complex traits like epilepsy are influenced by many genetic and environmental factors working together.
This is the most frequent genotype observed in most global populations.
Associated with minor risk
Carrying one copy of the C allele at this location has been identified in large-scale studies as having a small statistical association with an increased risk for epilepsy. Because this association is based on population-level data, it does not predict an individual outcome, and you should consult with a healthcare professional regarding any personal health concerns.
This genotype is found at a low to moderate frequency across various ancestral groups.
Increased risk marker
Individuals with this genotype carry two copies of the C allele, which has been linked in genomic meta-analyses to a slightly higher statistical risk for epilepsy compared to those without it. This variant is thought to influence the expression of the nearby TNKS gene, which plays a role in brain function. This finding is a research observation and should not be used for medical diagnosis.
This genotype is the least common of the three, appearing at a low frequency in most studied populations.
What is the rs28634186 Variant?
The rs28634186 variant is a single nucleotide polymorphism (SNP), which is a variation at a single position in the DNA sequence. In the context of human genomics, SNPs are the most common type of genetic variation among people. This specific variant is located in the vicinity of the TNKS gene. Researchers identify such variants by comparing the genomes of large groups of individuals to see if specific DNA changes correlate with observable traits, such as facial shape. Because this variant is located in a region associated with craniofacial development, it has become a subject of interest in studies aiming to map the genetic architecture of human appearance. It is important to note that this variant represents a small piece of a much larger, complex puzzle involving many genes and environmental factors that collectively influence how a person looks.
The Role of the TNKS Gene
The TNKS gene encodes the protein Tankyrase. Tankyrases are enzymes that play a critical role in various cellular processes, including the regulation of telomere length, which protects the ends of chromosomes, and the Wnt signaling pathway, which is essential for embryonic development and tissue homeostasis. Because the Wnt pathway is heavily involved in the development of various structures in the body, including the face and skull, variations in or near the TNKS gene are hypothesized to influence the subtle differences in facial morphology observed across human populations. While the gene's primary functions are well-documented in cellular biology, connecting specific SNPs like rs28634186 to precise physical outcomes remains an active area of research. Scientists use these associations to better understand the biological pathways that govern human development.
Research and Evidence Strength
The association between rs28634186 and facial features is grounded in genome-wide association studies (GWAS). These studies scan the genomes of thousands of individuals to find statistical links between genetic markers and specific traits. The evidence for this variant is considered moderate, meaning that while statistical signals have been detected in meta-analyses, the biological mechanism by which this specific SNP influences facial shape is not yet fully elucidated. Research in this field often faces challenges, such as the need for larger, more diverse cohorts to confirm that findings hold true across different ancestral backgrounds. Current literature suggests that common variants in regions harboring genes with known craniofacial functions contribute to the normal range of human facial variation, but these effects are typically polygenic, meaning many variants contribute small amounts to the final phenotype.
Population Frequency
The frequency of the rs28634186 variant varies across different global populations. Genomic databases like gnomAD provide data on how often specific alleles appear in diverse groups, which is essential for understanding the distribution of genetic traits. For rs28634186, the frequency is generally described as low to moderate. This means that while the variant is not rare, it is not present in every individual. Differences in allele frequency between populations can sometimes be attributed to evolutionary history, genetic drift, or natural selection. Researchers look at these frequency patterns to determine if a variant is likely to have a functional impact or if it is simply a neutral marker that has persisted in the population over time. Understanding these frequencies helps scientists refine their models of human genetic diversity.
Interpreting Your Genetic Information
It is important to understand that genetic variants like rs28634186 are associated with normal human variation rather than medical conditions. Having a particular genotype at this locus does not provide a diagnosis or predict a specific health outcome. Because facial features are influenced by a complex interplay of hundreds of genetic variants and environmental factors, it is not possible to predict a person's appearance based on a single SNP. This information is intended for educational purposes to help you understand the current state of genomic research. If you have questions about your genetic data or how it relates to your health, you should consult with a qualified healthcare professional or a genetic counselor who can provide context based on your personal and family medical history.
How common is this variant?
The rs28634186 variant is observed at low to moderate frequencies across global populations, with specific allele distributions varying by ancestral background.
Frequently asked questions
Can this variant predict what I look like?
No, this variant cannot predict your appearance. Facial features are determined by a complex combination of many different genes and environmental factors, and this SNP only has a very small, statistical association with normal facial variation.
Is this variant linked to any diseases?
The rs28634186 variant is primarily studied in the context of normal human facial variation. There is no evidence suggesting it is a diagnostic marker for any specific medical condition.
Where can I find more information about my own DNA?
If you have had your DNA sequenced, you can look up your specific genotype in the raw data provided by your testing service. For interpretation, always consult with a genetic counselor or a healthcare provider.
Why do researchers study facial genetics?
Researchers study facial genetics to understand the biological pathways involved in human development. This knowledge can provide insights into how craniofacial structures form and how genetic variations contribute to the diversity of human appearance.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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