The major genes identified through genome-wide association studies include:

MC1R (Melanocortin 1 Receptor): this gene encodes a receptor that controls the type of melanin produced in skin cells.

Variants in MC1R are associated with reduced ability to produce dark eumelanin and are common in people with red or blonde hair and lighter skin.

SLC45A2: this gene encodes a protein involved in melanin transport.

Specific variants in SLC45A2 are strongly associated with lighter skin in Europeans and are found at high frequencies in modern European populations.

SLC24A5: this gene encodes another protein involved in melanin production.