What you carry at this position in your DNA and what research says about it.
Skin Cancer Risk: 10/10 evidence, 36 publications.
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Sample genotype (not yours): G/G
Typical Skin Cancer Risk
Carrying two copies of the common G allele is associated with normal tyrosinase enzyme activity and typical melanin production. This provides baseline protection against ultraviolet radiation, resulting in a typical risk of skin cancers.
What this genotype means: Standard tyrosinase enzyme stability; Typical baseline skin cancer risk; Slightly higher risk of vitiligo.
Sample genotype (not yours): A/A
Increased Skin Cancer Risk
Carrying two copies of the A variant significantly reduces tyrosinase enzyme stability, leading to lower melanin levels. This compromises the skin's natural UV protection, resulting in an increased risk of skin cancers and higher sun sensitivity.
What this genotype means: Highly temperature-sensitive tyrosinase enzyme; Increased skin cancer risk; Significantly lower risk of vitiligo.
Sample genotype (not yours): G/A
Slightly Increased Skin Cancer Risk
Carrying one copy of the A variant reduces the stability of the tyrosinase enzyme, leading to slightly lower melanin levels. This reduction in natural pigment protection is associated with a slightly higher susceptibility to sun damage and skin cancers.
What this genotype means: Reduced tyrosinase enzyme stability; Slightly elevated skin cancer risk; Slightly lower risk of vitiligo.
Gene function and biological role
Gene Function: The TYR gene encodes tyrosinase, an essential enzyme that catalyzes the first steps of melanin pigment production in specialized cells called melanocytes [1]. Melanin is the primary pigment responsible for the coloration of skin, hair, and eyes, and it provides critical protection against ultraviolet radiation [1]. Mutations that completely disrupt tyrosinase function cause oculocutaneous albinism, a condition characterized by a complete lack of pigment and vision problems [2]. Common variations in this gene do not cause albinism on their own but can subtly alter enzyme activity, leading to differences in skin tone, eye color, and sun sensitivity [3].
Variant Impact: The rs1126809 variant, also known as p.Arg402Gln or R402Q, is a missense mutation in the TYR gene that replaces the amino acid arginine with glutamine at position 402 of the tyrosinase protein. This specific change results in a temperature-sensitive version of the tyrosinase enzyme that is less stable at normal body temperature, reducing overall melanin synthesis. Because of this reduced pigment production, individuals carrying the variant allele often have lighter skin, lighter eye color, and increased sensitivity to sunlight [3]. Although it reduces enzyme activity, this variant does not cause classic ocular albinism on its own [2]. However, the reduced melanin level compromises the skin's natural defense against UV radiation, which in turn influences the risk of developing various skin cancers [1].
Key Insight: This variant creates a temperature-sensitive version of the tyrosinase enzyme that degrades more quickly at normal body temperature, leading to lighter skin and eyes.
Location: TYR. Chromosome 11 · 11q14.3 · 89.3 Mb
Estimated prevalence by population
Global 68.8%; European 52.0%; African 90.3%; East Asian 99.7%; South Asian 88.0%; Americas 70.7%; Ashkenazi 57.9%; Finnish 70.8%; Middle Eastern 62.3%; Amish 62.3%.
Estimated GG genotype frequency.
Global 27.0%; European 40.2%; African 9.5%; East Asian 0.3%; South Asian 11.6%; Americas 26.8%; Ashkenazi 36.4%; Finnish 26.7%; Middle Eastern 33.3%; Amish 33.2%.
Estimated GA genotype frequency.
Global 4.2%; European 7.8%; African 0.2%; East Asian < 0.1%; South Asian 0.4%; Americas 2.5%; Ashkenazi 5.7%; Finnish 2.5%; Middle Eastern 4.4%; Amish 4.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Skin Cancer
Melanoma. Evidence: 10/10. Source: PMID 32341527. Typical Risk.
Basal Cell Carcinoma. Evidence: 10/10. Source: PMID 27539887. Typical Risk.
Squamous Cell Carcinoma. Evidence: 10/10. Source: PMID 26829030. Typical Risk.
Organ Systems
Skin & Hair Conditions
Vitiligo. Evidence: 6/10. Source: PMID 27723757. Increased Risk.
Pigmentation & Appearance
Eye Color. Evidence: 10/10. Source: PMID 30664655. Darker Eyes.
Tanning Response. Evidence: 10/10. Source: PMID 23548203. Typical Tanning.
Showing effects for A/A genotype
Melanoma. Evidence: 10/10. Source: PMID 32341527. Increased Risk.
Basal Cell Carcinoma. Evidence: 10/10. Source: PMID 27539887. Increased Risk.
Squamous Cell Carcinoma. Evidence: 10/10. Source: PMID 26829030. Increased Risk.
Vitiligo. Evidence: 6/10. Source: PMID 27723757. Lower Risk.
Eye Color. Evidence: 10/10. Source: PMID 30664655. Lighter Eyes.
Tanning Response. Evidence: 10/10. Source: PMID 23548203. Reduced Tanning.
Showing effects for G/A genotype
Melanoma. Evidence: 10/10. Source: PMID 32341527. Slightly Increased.
Basal Cell Carcinoma. Evidence: 10/10. Source: PMID 27539887. Slightly Increased.
Squamous Cell Carcinoma. Evidence: 10/10. Source: PMID 26829030. Slightly Increased.
Vitiligo. Evidence: 6/10. Source: PMID 27723757. Typical Risk.
Eye Color. Evidence: 10/10. Source: PMID 30664655. Intermediate.
Tanning Response. Evidence: 10/10. Source: PMID 23548203. Slightly Reduced.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the G allele means the tyrosinase enzyme functions at its standard capacity, producing normal levels of melanin pigment [1]. This pigment acts as a natural shield, absorbing harmful ultraviolet rays and protecting skin cells from DNA damage [1]. Consequently, this genotype is associated with a typical, baseline risk of developing melanoma, basal cell carcinoma, and squamous cell carcinoma [2]. However, because the G allele promotes active melanin synthesis and immune pathways, it is also linked to a slightly higher risk of vitiligo, an autoimmune condition where the immune system attacks pigment-producing cells [3]. Individuals with this genotype generally experience typical tanning responses and have a lower susceptibility to severe sunburns compared to those carrying the variant allele [4].
Standard tyrosinase enzyme stability; Typical baseline skin cancer risk; Slightly higher risk of vitiligo.
Sample genotype: AA (Homozygous)
Having two copies of the A variant means the body produces a highly temperature-sensitive form of the tyrosinase enzyme, which rapidly degrades at normal body temperature and severely limits melanin production [1]. This lack of sufficient pigment drastically reduces the skin's natural defense against harmful ultraviolet radiation [1]. As a result, individuals with this genotype have a significantly increased risk of developing melanoma, basal cell carcinoma, and squamous cell carcinoma [2]. They are also much more likely to experience sunburns, have difficulty tanning, and typically possess lighter skin and eye colors [3]. On the positive side, the marked reduction in melanin synthesis and melanocyte activity provides strong protection against vitiligo, making this autoimmune condition much less likely to develop [4].
Highly temperature-sensitive tyrosinase enzyme; Increased skin cancer risk; Significantly lower risk of vitiligo.
Sample genotype: GA (Heterozygous)
Carrying one copy of the A variant results in a partially compromised tyrosinase enzyme that is less stable at normal body temperature, leading to a subtle reduction in melanin synthesis [1]. With less pigment available to shield skin cells from ultraviolet radiation, the risk of UV-induced DNA damage increases [1]. Large-scale genetic studies have shown that individuals with this genotype have a slightly elevated risk of developing cutaneous melanoma and basal cell carcinoma [2]. The variant is also associated with lighter eye color and a tendency to burn rather than tan when exposed to the sun [3]. Conversely, the reduction in active pigment production and associated immune activity correlates with a lower risk of developing the autoimmune pigment-loss condition vitiligo [4].
Reduced tyrosinase enzyme stability; Slightly elevated skin cancer risk; Slightly lower risk of vitiligo.
Variants with shared genetic architecture
rs1042602 · TYR Gene · Chr 11 · Skin Pigmentation
rs1393350 · TYR Gene · Chr 11 · Melanoma and Pigmentation
rs910873 · PIGU Gene · Chr 20 · Skin Cancer Risk
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
Content updated August 2026.
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