What you carry at this position in your DNA and what research says about it.
Melanoma and Skin Cancer Risk: 10/10 evidence, 23 publications.
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Sample genotype (not yours): C/C
Typical Skin Cancer Risk and Darker Pigmentation
Normal receptor function maintains a healthy balance of protective dark melanin.
What this genotype means: Typical baseline risk of skin cancer; Normal eumelanin production; Low likelihood of red hair.
Sample genotype (not yours): C/T
Increased Melanoma Risk and Red Hair Carrier
Carrying one copy of the variant reduces the skin's natural UV defense.
What this genotype means: Elevated risk of melanoma and skin cancers; Carrier of the red hair trait; Increased susceptibility to sunburn.
Sample genotype (not yours): T/T
High Melanoma Risk and Red Hair Phenotype
Two copies of the variant significantly lower protective skin pigment, often resulting in red hair.
What this genotype means: Significantly elevated risk of melanoma; High likelihood of red hair and fair skin; Very high susceptibility to sunburn.
Gene function and biological role
Gene Function: The MC1R gene encodes the melanocortin 1 receptor, a key protein located on the surface of melanocytes, which produce pigment [1]. This receptor plays a central role in determining skin and hair color by regulating the balance between two types of melanin [1] [2]. When activated, the receptor triggers a cascade that produces eumelanin, a dark pigment that protects the skin from ultraviolet radiation [1]. In contrast, loss-of-function variations in this gene lead to the production of pheomelanin, a reddish-yellow pigment that offers poor UV protection [1] [3]. Consequently, variants in this gene are strongly linked to fair skin, freckles, red hair, and an increased susceptibility to skin cancers [1] [4].
Variant Impact: The rs1805008 variant in the MC1R gene is a missense mutation that changes the amino acid arginine to tryptophan at position 160, commonly known as the R160W variant [5]. This specific change impairs the receptor's ability to signal effectively, acting as a loss-of-function mutation [5]. As a result, individuals carrying this variant produce less protective eumelanin and more pheomelanin [5] [2]. This molecular shift significantly increases the likelihood of having red hair and fair, sun-sensitive skin [5] [3]. Beyond cosmetic traits, this variant is a well-established genetic risk factor for cutaneous melanoma and other skin cancers [4].
Key Insight: Carrying even a single copy of this variant increases melanoma risk, even in individuals who do not have red hair or fair skin. The same genetic pathway that controls skin pigment also influences dopamine-producing brain cells, linking this variant to a slightly higher risk of Parkinson's disease.
Location: MC1R. Chromosome 16 · 16q24.3 · 89.9 Mb
Origin Story: The R160W variant likely rose in frequency in northern European populations due to relaxed evolutionary pressure for dark skin in regions with low sunlight, where lighter skin facilitated the synthesis of essential vitamin D.
Estimated prevalence by population
Global 91.0%; European 85.2%; African 97.4%; East Asian > 99.9%; South Asian 99.0%; Americas 97.3%; Ashkenazi 88.4%; Finnish 88.2%; Middle Eastern 96.0%; Amish 80.6%.
Estimated CC genotype frequency.
Global 8.7%; European 14.2%; African 2.6%; East Asian < 0.1%; South Asian 1.0%; Americas 2.7%; Ashkenazi 11.3%; Finnish 11.5%; Middle Eastern 4.0%; Amish 18.3%.
Estimated CT genotype frequency.
Global 0.3%; European 0.6%; African < 0.1%; East Asian < 0.1%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi 0.4%; Finnish 0.4%; Middle Eastern < 0.1%; Amish 1.0%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Skin Cancer
Melanoma. Evidence: 10/10. Source: PMID 32341527. Typical Risk.
Keratinocyte Carcinoma. Evidence: 8/10. Source: PMID 31174203. Typical Risk.
Organ Systems
Pigmentation & Appearance
Skin Pigmentation. Evidence: 8/10. Source: PMID 25963972. Typical.
Hair Color. Evidence: 8/10. Source: PMID 30531825. Typical.
Sunburn Susceptibility. Evidence: 8/10. Source: PMID 30595370. Typical.
Neurology & Mental Health
Neurodegenerative Diseases
Parkinson's Disease. Evidence: 3/10. Source: PMID 25631192. Typical Risk.
Showing effects for C/T genotype
Melanoma. Evidence: 10/10. Source: PMID 32341527. Increased Risk.
Keratinocyte Carcinoma. Evidence: 8/10. Source: PMID 31174203. Increased Risk.
Skin Pigmentation. Evidence: 8/10. Source: PMID 25963972. Lighter Skin.
Hair Color. Evidence: 8/10. Source: PMID 30531825. Red Hair Carrier.
Sunburn Susceptibility. Evidence: 8/10. Source: PMID 30595370. Higher Risk.
Parkinson's Disease. Evidence: 3/10. Source: PMID 25631192. Slightly Increased.
Showing effects for T/T genotype
Melanoma. Evidence: 10/10. Source: PMID 32341527. High Risk.
Keratinocyte Carcinoma. Evidence: 8/10. Source: PMID 31174203. High Risk.
Skin Pigmentation. Evidence: 8/10. Source: PMID 25963972. Very Fair Skin.
Hair Color. Evidence: 8/10. Source: PMID 30531825. Red Hair.
Sunburn Susceptibility. Evidence: 8/10. Source: PMID 30595370. High Risk.
Parkinson's Disease. Evidence: 3/10. Source: PMID 25631192. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the reference allele ensures that the melanocortin 1 receptor functions at full capacity [1]. This normal signaling pathway promotes the synthesis of eumelanin, the dark pigment that acts as a natural shield against ultraviolet radiation [1] [2]. Consequently, this genotype is associated with a typical baseline risk for melanoma and other skin cancers [3]. Hair color is highly unlikely to be red, and skin is less prone to severe sunburn compared to variant carriers [1] [4]. However, environmental factors like cumulative sun exposure still drive skin damage [4].
Typical baseline risk of skin cancer; Normal eumelanin production; Low likelihood of red hair.
Sample genotype: CT (Heterozygous)
Carrying a single copy of the R160W variant partially impairs the receptor's ability to produce protective dark pigment [1]. This reduction in eumelanin synthesis elevates the risk of developing melanoma and non-melanoma skin cancers [2] [3]. While this genotype does not guarantee red hair, it makes the individual a carrier of the trait [1]. Sunburns may occur more easily due to the compromised pigment barrier [4]. Emerging research also suggests a potential, slight increase in susceptibility to Parkinson's disease due to shared pathways in the brain [5].
Elevated risk of melanoma and skin cancers; Carrier of the red hair trait; Increased susceptibility to sunburn.
Sample genotype: TT (Homozygous)
Having two copies of the R160W variant leads to a substantial loss of melanocortin 1 receptor function [1]. The body produces very little protective eumelanin, resulting in fair skin, freckles, and a high likelihood of red hair [1] [2]. This lack of natural UV protection significantly increases the risk of sunburns and skin cancers, including melanoma [3] [4]. Studies indicate that this elevated cancer risk exists independently of actual hair color or skin type [3]. Additionally, the altered receptor activity is linked to a higher susceptibility to Parkinson's disease [5].
Significantly elevated risk of melanoma; High likelihood of red hair and fair skin; Very high susceptibility to sunburn.
Variants with shared genetic architecture
rs1805007 · MC1R Gene · Chr 16 · Skin Cancer Risk
rs2228479 · MC1R Gene · Chr 16 · Skin and Hair Pigmentation
rs1805005 · MC1R Gene · Chr 16 · Melanoma Risk
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Two newly identified genetic determinants of pigmentation in Europeans.
Melanocortin 1 receptor variants in an Irish population.
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Content updated September 2026.
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