What you carry at this position in your DNA and what research says about it.
Skin Cancer Risk: 10/10 evidence, 27 publications.
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Sample genotype (not yours): A/A
Higher Risk of Skin Cancer and Higher BMI
Lighter skin tones and increased sensitivity to sunlight are highly common with this genetic profile. This sensitivity leads to an elevated risk of UV-induced skin damage and skin cancers.
What this genotype means: Lighter skin pigmentation; Higher susceptibility to sunburn; Elevated risk of skin cancer.
Sample genotype (not yours): A/G
Typical Skin Cancer Risk and Average BMI
An intermediate genetic profile often leads to a medium skin tone and a balanced sensitivity to sunlight. Risks for skin cancer, BMI, and glaucoma generally fall within the typical average range.
What this genotype means: Medium skin pigmentation; Moderate sun sensitivity; Typical baseline risk for skin cancer and BMI.
Sample genotype (not yours): G/G
Lower Risk of Skin Cancer and Lower BMI
Darker skin pigmentation and robust natural protection against UV radiation are characteristic of this profile. This significantly lowers the risk of skin cancers, though there is a small increase in glaucoma risk.
What this genotype means: Darker skin pigmentation; High natural UV protection; Significantly lower skin cancer risk.
Gene function and biological role
Gene Function: The MYEF2 gene, which closely overlaps with the well-known pigmentation gene SLC24A5 on chromosome 15, plays a central role in human skin color variation [1]. It encodes a protein that functions as a potassium-dependent sodium/calcium exchanger in pigment-producing cells [2]. This exchanger helps regulate the production of melanin, the primary pigment responsible for skin, hair, and eye color [2]. Variations in this genetic region are among the most powerful determinants of natural skin tone differences between human populations globally [3]. Additionally, these variations influence susceptibility to ultraviolet radiation and related skin conditions [4].
Variant Impact: The rs1426654 variant is a missense mutation that alters the 111th amino acid of the encoded protein from alanine to threonine [5]. This single amino acid change significantly reduces the activity of the calcium exchanger, leading to fewer and smaller pigment granules in skin cells [2]. Originating thousands of years ago, this genetic change rapidly rose in frequency across Western Eurasia due to strong evolutionary selection [1]. Today, it serves as a major genetic marker for lighter skin tones and is associated with altered susceptibility to UV-induced skin damage [4].
Key Insight: This single genetic letter swap is responsible for an estimated 25 to 40 percent of the natural skin tone difference between populations of European and African descent.
Location: MYEF2. Chromosome 15 · 15q21.1 · 48.1 Mb
Origin Story: The light-skin threonine variant arose in a single ancestor and underwent intense positive selection in Western Eurasia between 6,000 and 12,000 years ago, likely to maximize vitamin D synthesis in low-sunlight northern latitudes.
Estimated prevalence by population
Global 62.5%; European 99.2%; African 4.0%; East Asian < 0.1%; South Asian 56.5%; Americas 44.6%; Ashkenazi 99.5%; Finnish 97.5%; Middle Eastern 96.6%; Amish 100.0%.
Estimated AA genotype frequency.
Global 15.2%; European 0.8%; African 32.1%; East Asian 3.0%; South Asian 37.3%; Americas 44.4%; Ashkenazi 0.5%; Finnish 2.4%; Middle Eastern 3.3%; Amish 0.0%.
Estimated AG genotype frequency.
Global 22.3%; European < 0.1%; African 63.8%; East Asian 96.9%; South Asian 6.2%; Americas 11.0%; Ashkenazi < 0.1%; Finnish < 0.1%; Middle Eastern < 0.1%; Amish 0.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Skin Cancer
Skin Cancer. Evidence: 10/10. Source: PMID 39024449. Higher Risk.
Organ Systems
Pigmentation & Appearance
Skin Pigmentation. Evidence: 10/10. Source: PMID 29195075. Lighter Skin.
Eye Color. Evidence: 9/10. Source: PMID 30664655. Lighter Eyes.
Vision & Eye Health
Glaucoma. Evidence: 6/10. Source: PMID 39024449. Lower Risk.
Cardiovascular & Metabolic
Obesity & Body Composition
Body Mass Index. Evidence: 4/10. Source: PMID 25133637. Higher BMI.
Showing effects for A/G genotype
Skin Cancer. Evidence: 10/10. Source: PMID 39024449. Typical Risk.
Skin Pigmentation. Evidence: 10/10. Source: PMID 29195075. Medium Skin.
Eye Color. Evidence: 9/10. Source: PMID 30664655. Medium/Dark Eyes.
Glaucoma. Evidence: 6/10. Source: PMID 39024449. Typical Risk.
Body Mass Index. Evidence: 4/10. Source: PMID 25133637. Typical BMI.
Showing effects for G/G genotype
Skin Cancer. Evidence: 10/10. Source: PMID 39024449. Lower Risk.
Skin Pigmentation. Evidence: 10/10. Source: PMID 29195075. Darker Skin.
Eye Color. Evidence: 9/10. Source: PMID 30664655. Darker Eyes.
Glaucoma. Evidence: 6/10. Source: PMID 39024449. Higher Risk.
Body Mass Index. Evidence: 4/10. Source: PMID 25133637. Lower BMI.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Lighter skin tones result from this genetic profile, which is highly common in populations of European and West Eurasian descent [1]. Because lighter skin absorbs more ultraviolet radiation, it provides an evolutionary advantage in low-sunlight environments by boosting vitamin D synthesis [2]. However, this increased sensitivity to UV light also elevates the risk of developing skin cancers, including melanoma and actinic keratosis [3]. Studies also link this profile to a slightly higher average body mass index [4]. Conversely, it is associated with a lower risk of developing open-angle glaucoma [3].
Lighter skin pigmentation; Higher susceptibility to sunburn; Elevated risk of skin cancer; Slightly higher average BMI.
Sample genotype: AG (Heterozygous)
An intermediate genetic profile often leads to a medium skin tone and a balanced sensitivity to sunlight [1]. This heterozygous state is frequently observed in admixed populations, such as Latin Americans, reflecting diverse ancestral lineages [2]. The risk of UV-induced skin damage and skin cancers like melanoma is typically average compared to the general population [3]. Body mass index and glaucoma risks also tend to fall within the typical baseline range [4]. Overall, this profile represents a common genetic middle ground with no extreme predispositions.
Medium skin pigmentation; Moderate sun sensitivity; Typical baseline risk for skin cancer and BMI.
Sample genotype: GG (Homozygous)
Darker skin pigmentation is highly characteristic of this genetic profile, which represents the ancestral human state [1]. This darker pigmentation provides robust natural protection against harmful ultraviolet radiation, significantly lowering the risk of skin cancers and sun damage [2]. Consequently, the likelihood of developing melanoma or precancerous actinic keratosis is very low [3]. This profile is also associated with a slightly lower average body mass index [4]. However, there is a small statistical increase in the risk of developing open-angle glaucoma [3].
Darker skin pigmentation; High natural UV protection; Significantly lower skin cancer risk; Slightly lower average BMI.
Variants with shared genetic architecture
rs12913832 · HERC2 Gene · Chr 15 · Eye Color and Skin Cancer
rs1126809 · TYR Gene · Chr 11 · Skin Cancer Risk
rs1129038 · HERC2 Gene · Chr 15 · Eye Pigmentation and Health
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.
Improved eye- and skin-color prediction based on 8 SNPs.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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