Skin & Eyes

Major determinant of light skin pigmentation in Europeans; lighter-skinned individuals have reduced melanin photoprotection and elevated melanoma risk

Intronic enhancer variant controlling OCA2 expression and determining blue versus brown eye color, the strongest genetic predictor of iris pigmentation

Regulatory variant in IRF4 enhancer affecting melanocyte pigmentation, sun sensitivity, freckling, and melanoma susceptibility

Common tyrosinase variant affecting melanin production, skin pigmentation, tanning ability, freckling, and melanoma risk

Promoter polymorphism affecting MMP1 expression and collagen degradation rate, influencing photoaging severity and UV-induced skin damage

Lead SNP at the 20p11 locus, the strongest autosomal genetic risk factor for androgenetic alopecia (male pattern baldness), affecting Wnt signaling pathways critical for hair follicle cycling

Strongly increases risk of age-related macular degeneration through impaired complement regulation on retinal cells and drusen formation

Second strongest genetic risk factor for age-related macular degeneration, affecting complement activation and retinal cell oxidative stress

Missense variant in complement C3 increasing risk of age-related macular degeneration through enhanced complement activation

Intergenic variant near caveolin genes affecting primary open-angle glaucoma risk and intraocular pressure regulation

Affects optic nerve development and retinal ganglion cell survival, strongly associated with primary open-angle glaucoma risk

Intergenic variant near GJD2 affecting myopia risk and axial eye growth through retinal gap junction signaling

Eye color modifier gene influencing green and hazel eye color through melanosome pH regulation

Sodium/potassium/calcium exchanger that regulates melanin production in skin cells

Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from photoprotective eumelanin to pro-oxidant pheomelanin; doubles melanoma risk and triples non-melanoma skin cancer risk per allele

Intronic variant in the eumelanin enzyme TYRP1 associated with eye and hair color, UV sensitivity, and modestly elevated melanoma risk in Europeans

3'UTR variant controlling ASIP protein output; G allele reduces ASIP mRNA 12-fold, promoting eumelanin and darker skin, hair, and eye pigmentation

Intergenic enhancer variant controlling BNC2 expression in melanocytes; determines pigmentation saturation and freckling tendency with implications for UV sensitivity and skin cancer risk

X-linked extracellular matrix variant affecting skin connective tissue integrity and stretch mark susceptibility

Intronic pigmentation variant in SLC45A2 strongly associated with skin color, hair color, and tanning ability; the light-pigmentation allele increases sun sensitivity and melanoma risk