Skin & Eyes

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

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

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

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

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

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

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

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

Nonsense variant eliminating filaggrin protein — a minor European FLG null allele that acts as a compound heterozygote partner to the major European FLG mutations in atopic dermatitis and ichthyosis vulgaris

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

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

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

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

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

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

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

Intronic regulatory variant in the filaggrin gene locus that reduces FLG expression and increases atopic dermatitis (eczema) susceptibility; A allele is markedly more common in East Asian and African populations

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

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

Frameshift deletion in the third filaggrin repeat domain — the third most common European FLG null allele, causing filaggrin haploinsufficiency in carriers and complete filaggrin deficiency in compound heterozygotes with R501X or 2282del4

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

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

Frameshift deletion eliminating filaggrin protein, the second most common European FLG null allele — causes ichthyosis vulgaris and atopic dermatitis, and together with R501X enables complete filaggrin deficiency in compound heterozygotes

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

Nonsense variant eliminating filaggrin protein, the major genetic risk factor for atopic dermatitis and the atopic march from eczema to asthma and food allergy