TYR rs1847134: Understanding Your Genetic Pigmentation Variant
The rs1847134 variant is a single-nucleotide polymorphism located within the TYR gene. It is statistically associated with variations in human eye color and the skin's tanning response to sunlight.
What each genotype means
Associated with pigmentation variation
This genotype is located in the TYR gene, which plays a role in melanin production. Research has associated this variant with subtle differences in eye color and skin tanning response, though the overall impact on these traits is considered limited and likely influenced by many other genetic and environmental factors.
This genotype is found in various populations, with the A allele being common in European ancestries.
Associated with pigmentation variation
Carrying one copy of each allele means you have a heterozygous genotype at this position in the TYR gene. Studies suggest this variant may contribute to natural variation in human pigmentation, but it is not a primary determinant of eye or skin color on its own.
This heterozygous genotype is frequently observed in populations where both the A and C alleles are present at significant frequencies.
Associated with pigmentation variation
This genotype represents the alternative homozygous state for this intronic variant in the TYR gene. While associated with pigmentary traits in some genome-wide association studies, the effect size is small and should be viewed as one of many contributors to individual variation in appearance.
This genotype is common in many global populations, appearing at varying frequencies depending on ancestral background.
What is rs1847134?
The variant rs1847134 is a single-nucleotide polymorphism (SNP) situated within the TYR gene on chromosome 11. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is classified as intronic, meaning it resides in a non-coding region of the gene that does not directly provide instructions for building the tyrosinase protein. Despite being located in an intron, such variants can sometimes influence how genes are regulated or expressed. Researchers track these markers to understand the genetic architecture behind complex, polygenic traits like pigmentation. Because rs1847134 is a common variation, it is frequently included in large-scale genetic studies aimed at mapping the biological basis of human physical diversity.
The Role of the TYR Gene
The TYR gene provides the essential instructions for producing an enzyme called tyrosinase. This enzyme is primarily active within melanocytes, which are specialized cells responsible for the production of melanin, the pigment that gives color to our skin, hair, and eyes. Tyrosinase acts as a rate-limiting enzyme in the melanin biosynthesis pathway, meaning it controls the speed at which pigment is created. When the TYR gene functions normally, it ensures the body can produce adequate melanin to protect the skin from ultraviolet radiation and provide characteristic coloration. Mutations that significantly disrupt the function of this gene can lead to conditions like oculocutaneous albinism, where melanin production is severely reduced. In the general population, smaller variations in this gene contribute to the wide spectrum of natural human pigmentation.
Research and Evidence Strength
Scientific research has identified rs1847134 as a marker associated with human pigmentation traits, specifically eye color and tanning response. Genome-wide association studies (GWAS) have highlighted this variant as one of many genetic factors that contribute to the subtle differences in how individuals express pigment. However, the evidence strength for this specific SNP is considered limited. While statistical associations have been observed in various cohorts, pigmentation is a highly complex trait influenced by dozens of genes, including OCA2, HERC2, and SLC45A2. Because rs1847134 is just one piece of a much larger puzzle, it does not act as a sole determinant for eye or skin color. Current findings suggest that while this variant is a useful marker for research, it should not be used to predict individual physical traits with certainty.
Population Frequency
The frequency of the rs1847134 variant varies significantly across different ancestral groups. Data indicates a minor allele frequency of approximately 0.38 in European populations, while it is observed at a lower frequency of about 0.12 in East Asian populations. These differences reflect the diverse evolutionary history of human populations and the varying selective pressures that have shaped pigmentation genes over time. Because the variant is relatively common in certain groups, it is frequently detected in direct-to-consumer genetic testing and large-scale genomic databases. Understanding these frequency differences is important for researchers who study how genetic markers are distributed globally and how they correlate with environmental adaptations, such as the need for varying levels of melanin protection in different latitudes.
Interpreting Your Results
If you encounter rs1847134 in a personal genetic report, it is important to view this information as a point of curiosity rather than a medical diagnostic. This variant is associated with normal human variation in appearance and does not indicate a health condition or disease risk. You cannot use this information to determine your exact eye color or skin type, as these traits are the result of the combined effect of many genes and environmental factors. If you have concerns about your skin health, such as sensitivity to the sun or changes in moles, you should consult a dermatologist rather than relying on genetic markers. Genetic data provides a glimpse into your biological heritage, but it is not a substitute for professional medical advice or clinical evaluation.
How common is this variant?
The minor allele frequency for rs1847134 is approximately 0.38 in European populations and 0.12 in East Asian populations.
Frequently asked questions
Does rs1847134 determine my eye color?
No, rs1847134 is only one of many genetic variants that contribute to eye color. Human eye color is a complex, polygenic trait, and this single SNP cannot predict your eye color with accuracy.
Is rs1847134 linked to skin cancer risk?
While some variants in the TYR gene are studied in the context of skin pigmentation and melanoma susceptibility, rs1847134 is primarily associated with normal variation in pigmentation. It is not considered a diagnostic marker for skin cancer risk.
Can I change my gene expression at the TYR locus?
No, your genetic sequence is inherited and remains constant throughout your life. While you cannot change your DNA, you can manage your skin health through sun protection and regular check-ups with a dermatologist.
Why do different populations have different frequencies of this SNP?
Differences in allele frequencies across populations are largely due to evolutionary history and natural selection. Pigmentation genes have been subject to different selective pressures depending on the geographic region and sunlight exposure of ancestral populations.
Sources & further reading
Educational information only, last refreshed 9/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the tyrosinase gene is associated with oculocutaneous albinism type 1.
This variant (S192Y) in the TYR gene is associated with variations in skin, hair, and eye pigmentation and is a known risk allele for melanoma.
Common missense variant (R402Q) associated with variation in skin, eye, and hair pigmentation in human populations.
This variant is associated with oculocutaneous albinism type 1B and shows a notable frequency in the admixed American population.
Tyrosinase regulatory variant associated with natural skin pigmentation and freckling.
TYR S192Y alters tyrosinase activity, influencing skin and hair pigmentation.