TYR rs61754381: Understanding This Genetic Variant
The rs61754381 variant is a specific change located within the TYR gene, which provides instructions for making the tyrosinase enzyme. This variant has been identified in research contexts as being associated with oculocutaneous albinism, a condition affecting pigmentation.
What each genotype means
Typical TYR genotype
This is the most common genotype for this position in the TYR gene. It is considered the reference sequence and is not associated with the oculocutaneous albinism phenotypes linked to the alternative allele.
This is the predominant genotype found in the vast majority of the global population.
Carrier of variant allele
You carry one copy of the variant allele, which is associated with oculocutaneous albinism. Because this condition is typically inherited in an autosomal recessive manner, carrying a single copy generally does not result in the clinical features of albinism, though it may be relevant for family planning.
This genotype is found at low frequencies in most populations, though it has been identified in approximately 1.5% of Ashkenazi Jewish chromosomes.
Associated with albinism risk
This genotype involves two copies of the variant allele, which has been classified as pathogenic in clinical databases regarding oculocutaneous albinism. Individuals with this genotype should consult with a genetic counselor or medical professional to understand its clinical implications for their health.
This genotype is very rare, though it has been documented in population databases such as gnomAD.
What is rs61754381 and where is it located?
The rs61754381 variant is a single nucleotide polymorphism (SNP) situated on chromosome 11 within the TYR gene. In genetic nomenclature, it is often referred to as c.1037-7T>A, indicating its position within the gene's structure. SNPs are the most common type of genetic variation among people, representing a difference in a single DNA building block, or nucleotide. Because this variant is located in a region of the TYR gene that influences how the gene's instructions are processed, it can potentially impact the production or function of the resulting protein. Researchers track these specific locations to understand how variations in our genetic code contribute to differences in human traits and health conditions.
The Role of the TYR Gene
The TYR gene is responsible for providing the blueprint for the enzyme tyrosinase. This enzyme plays a critical role in the production of melanin, the pigment that gives color to our skin, hair, and eyes. Tyrosinase acts as a catalyst, helping to convert the amino acid tyrosine into L-DOPA and subsequently into melanin. When the TYR gene functions normally, it ensures that the body produces sufficient pigment to protect the skin from ultraviolet radiation and to provide normal coloration. If the gene contains variants that significantly reduce or eliminate the activity of the tyrosinase enzyme, the body's ability to produce melanin is impaired, which is the underlying cause of various forms of oculocutaneous albinism.
Research Associations and Evidence
Scientific literature and databases like ClinVar have classified rs61754381 as a pathogenic or likely pathogenic variant in the context of oculocutaneous albinism. This means that research has observed a strong link between this specific genetic change and the clinical presentation of albinism. Oculocutaneous albinism is a group of inherited disorders characterized by a reduction or absence of melanin. While the evidence linking this variant to the condition is documented, it is important to note that the clinical impact can vary. Genetic associations are often complex, and the presence of a variant does not always guarantee a specific health outcome, as other genetic and environmental factors also play a role in how traits are expressed.
Population Frequency
The frequency of genetic variants can differ significantly across various ancestral groups. According to data from the 1000 Genomes Project, the rs61754381 variant has been reported at a frequency of approximately 0.00434 in the admixed American population. Additionally, the Genome Aggregation Database (gnomAD) has identified this variant in about 1.5% of Ashkenazi Jewish chromosomes. These statistics highlight that while the variant is rare in many global populations, it may appear more frequently in specific groups. Understanding these frequency patterns is a key part of population genetics, helping researchers determine how certain traits or conditions are distributed across different human ancestries.
What You Can and Cannot Do With This Information
Information about genetic variants like rs61754381 is intended for educational purposes and to provide insight into the genetic basis of human traits. It is not a substitute for professional medical advice, diagnosis, or treatment. If you have concerns about your health or family history, it is essential to consult with a qualified healthcare provider or a genetic counselor. They can help interpret genetic information in the context of your personal health history and provide appropriate guidance. You cannot use this information to self-diagnose or make medical decisions. Always rely on clinical testing and professional medical evaluation for any health-related concerns.
How common is this variant?
The rs61754381 variant is reported at a frequency of 0.00434 in the admixed American population and has been identified in 1.5% of Ashkenazi chromosomes.
Frequently asked questions
What is oculocutaneous albinism?
Oculocutaneous albinism is a group of inherited conditions that result in little or no production of the pigment melanin. This leads to lighter skin, hair, and eye color, and often causes vision problems.
Is rs61754381 a dangerous mutation?
The variant is classified as pathogenic or likely pathogenic in relation to albinism. Whether it is considered 'dangerous' depends on the context of an individual's overall genetic makeup and health status, which should be discussed with a medical professional.
Can I get tested for this variant?
Genetic testing for specific variants is available through clinical laboratories, usually ordered by a physician or genetic counselor. You should speak with your doctor if you believe genetic testing is relevant to your health.
Does having this variant mean I have albinism?
Not necessarily. Oculocutaneous albinism is typically an autosomal recessive condition, meaning an individual usually needs to inherit two copies of a pathogenic variant to express the condition. A genetic counselor can help explain your specific results.
Sources & further reading
Educational information only, last refreshed 9/17/2026. 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.
Intronic single-nucleotide variant in the tyrosinase gene associated with variation in human eye color and cutaneous tanning response.
Tyrosinase regulatory variant associated with natural skin pigmentation and freckling.
TYR S192Y alters tyrosinase activity, influencing skin and hair pigmentation.