What you carry at this position in your DNA and what research says about it.
Skin Pigmentation: 10/10 evidence, 25 publications.
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Sample genotype (not yours): C/C
Typical Melanin Production and Darker Skin
Melanin production remains at baseline levels, supporting darker skin and hair pigmentation. This genotype is also associated with a higher likelihood of freckling.
What this genotype means: Typical melanin production; Darker skin and hair; Higher likelihood of freckles.
Sample genotype (not yours): A/A
Lighter Skin and Absence of Freckles
Melanin production is significantly reduced, resulting in lighter skin, lighter hair, and an absence of freckles. It also lowers the risk of vitiligo.
What this genotype means: Reduced melanin production; Lighter skin and hair; Absence of freckles.
Sample genotype (not yours): C/A
Slightly Lighter Skin and Fewer Freckles
Melanin production is slightly reduced, leading to intermediate skin and hair tones. The likelihood of developing freckles is also moderately decreased.
What this genotype means: Slightly reduced melanin production; Intermediate skin and hair tones; Fewer freckles.
Gene function and biological role
Gene Function: The TYR gene encodes tyrosinase, an essential copper-containing enzyme that catalyzes the first steps of melanin production [1]. Melanin is the primary pigment responsible for the color of human skin, hair, and eyes [1]. Within specialized cells called melanocytes, tyrosinase converts the amino acid tyrosine into dopaquinone, which is then synthesized into dark eumelanin or reddish-yellow pheomelanin [1]. Variations or mutations in this gene can significantly alter enzymatic activity, leading to a wide spectrum of pigmentation phenotypes [2]. Complete loss of tyrosinase function results in oculocutaneous albinism type 1, a condition characterized by a total lack of melanin [2].
Variant Impact: A single nucleotide change in the TYR gene, rs1042602, causes an amino acid substitution where serine is replaced by tyrosine at position 192 [1]. Known as the Ser192Tyr polymorphism, this change alters the structure of the enzyme and reduces its catalytic efficiency in producing melanin [1]. The ancestral C allele maintains typical tyrosinase activity, whereas the derived A allele is associated with decreased pigment synthesis [1]. Consequently, this genetic variation is a major driver of natural differences in skin, hair, and eye color across global populations [2]. It also influences susceptibility to certain skin and eye conditions by altering the protective melanin barrier [2].
Key Insight: Although the A allele reduces melanin production and lightens skin, it actually provides strong protection against vitiligo, an autoimmune condition where the immune system mistakenly attacks pigment-producing cells.
Location: TYR. Chromosome 11 · 11q14.3 · 89.2 Mb
Origin Story: The derived A allele likely arose and rose to high frequency in European populations as an evolutionary adaptation to high-latitude environments with lower ultraviolet radiation, facilitating greater vitamin D synthesis in lighter skin.
Estimated prevalence by population
Global 59.4%; European 40.3%; African 87.1%; East Asian 99.5%; South Asian 81.3%; Americas 53.1%; Ashkenazi 29.7%; Finnish 66.8%; Middle Eastern 35.4%; Amish 43.2%.
Estimated CC genotype frequency.
Global 32.8%; European 46.4%; African 12.5%; East Asian 0.5%; South Asian 17.8%; Americas 39.5%; Ashkenazi 49.6%; Finnish 29.9%; Middle Eastern 48.2%; Amish 45.0%.
Estimated CA genotype frequency.
Global 7.8%; European 13.3%; African 0.4%; East Asian < 0.1%; South Asian 1.0%; Americas 7.4%; Ashkenazi 20.7%; Finnish 3.3%; Middle Eastern 16.4%; Amish 11.7%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Organ Systems
Pigmentation & Appearance
Skin Pigmentation. Evidence: 10/10. Source: PMID 17952075. Darker Skin.
Freckles. Evidence: 5/10. Source: PMID 17952075. More Freckles.
Hair Color. Evidence: 10/10. Source: PMID 29662168. Darker Hair.
Skin & Hair Conditions
Vitiligo. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Vision & Eye Health
Cataract. Evidence: 7/10. Source: PMID 34594039. Typical Risk.
Showing effects for A/A genotype
Skin Pigmentation. Evidence: 10/10. Source: PMID 17952075. Lighter Skin.
Freckles. Evidence: 5/10. Source: PMID 17952075. No Freckles.
Hair Color. Evidence: 10/10. Source: PMID 29662168. Lighter Hair.
Vitiligo. Evidence: 8/10. Source: PMID 39024449. Decreased Risk.
Cataract. Evidence: 7/10. Source: PMID 34594039. Increased Risk.
Showing effects for C/A genotype
Skin Pigmentation. Evidence: 10/10. Source: PMID 17952075. Medium Skin.
Freckles. Evidence: 5/10. Source: PMID 17952075. Fewer Freckles.
Hair Color. Evidence: 10/10. Source: PMID 29662168. Medium Hair.
Vitiligo. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Two copies of the ancestral C allele maintain full tyrosinase enzymatic activity, leading to typical melanin synthesis [1]. This results in darker skin and hair pigmentation compared to carriers of the variant allele [1]. The presence of full-strength tyrosinase is also strongly linked to the formation of freckles upon sun exposure [1]. While darker pigmentation provides natural protection against ultraviolet radiation and lowers the risk of skin damage, it is associated with a higher risk of vitiligo [2]. Vitiligo is an autoimmune condition where the immune system targets active pigment-producing cells, and higher tyrosinase activity may increase the visibility of these targets [2]. Additionally, this genotype is associated with typical intraocular pressure and a lower risk of age-related cataracts [3]. Overall, this represents the ancestral genetic baseline for human pigmentation.
Typical melanin production; Darker skin and hair; Higher likelihood of freckles; Increased risk of vitiligo.
Sample genotype: AA (Homozygous)
Two copies of the variant A allele significantly reduce tyrosinase enzymatic activity, leading to lower overall melanin production [1]. This genotype is strongly associated with lighter skin and hair pigmentation, particularly in populations of European ancestry [1]. It is also highly linked to the complete absence of freckles, as the reduced pigment synthesis limits the localized clusters of melanin that form these spots [2]. While lighter skin is less protected against ultraviolet radiation, this genotype offers a significant protective effect against vitiligo [3]. The reduced activity of tyrosinase appears to make melanocytes less vulnerable to autoimmune destruction [3]. However, the lower pigment levels are also associated with a slightly increased risk of cataracts and elevated intraocular pressure [4]. This genotype represents a clear evolutionary shift toward lighter pigmentation.
Reduced melanin production; Lighter skin and hair; Absence of freckles; Lower risk of vitiligo.
Sample genotype: CA (Heterozygous)
One copy of the ancestral C allele combined with one copy of the variant A allele results in intermediate tyrosinase activity [1]. This heterozygous state typically manifests as slightly lighter skin and hair compared to the ancestral genotype [1]. The moderate reduction in melanin synthesis also decreases the density and appearance of freckles [2]. Because this genotype represents a balance between the ancestral and derived alleles, the risk of vitiligo is intermediate [3]. Similarly, the risks for eye-related traits, such as elevated intraocular pressure and cataracts, remain close to typical population baselines [4]. This genetic profile is highly common in populations of European and Middle Eastern descent, reflecting historical patterns of migration and adaptation [1]. It represents a functional middle ground in human pigment variation.
Slightly reduced melanin production; Intermediate skin and hair tones; Fewer freckles; Typical vitiligo risk.
Variants with shared genetic architecture
rs1126809 · TYR Gene · Chr 11 · Skin Cancer Risk
rs1393350 · TYR Gene · Chr 11 · Melanoma and Pigmentation
rs12203592 · IRF4 Gene · Chr 6 · Skin Cancer Risk
Genetic determinants of hair, eye and skin pigmentation in Europeans.
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A cross-population atlas of genetic associations for 220 human phenotypes.
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Content updated August 2026.
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