Freckles are small, concentrated spots of melanin on the skin, often appearing on sun-exposed areas and becoming more prominent with sunlight exposure. Research shows that variations near genes involved in pigmentation regulation (like MC1R, TYR, and ASIP) strongly influence freckle formation and distribution. Freckl...
1000 Genomes Project · European · Human
15 of 15 SNPs with zeta at 7.034
1000 Genomes Project · European · Human
15 of 15 SNPs with zeta at 7.034
1000 Genomes Project · East Asian · Human
15 of 15 SNPs with zeta at 6.999
OpenSNP · European · Human
6 of 15 SNPs with zeta at 6.599
OpenSNP · European · Human
7 of 15 SNPs with zeta at 6.599
OpenSNP · American · Human
6 of 15 SNPs with zeta at 6.599
OpenSNP · European American · Human
7 of 15 SNPs with zeta at 6.599
Freckles (EFO_0003963) are small, pigmented spots on the skin resulting from localized increases in melanin production, commonly influenced by UV exposure. They are strongly ass...
EFO_0003963
basonuclin zinc finger protein 2
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. Thi...
heat shock protein family A (Hsp70) member 12A
Predicted to enable ATP binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
solute carrier family 45 member 2
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause...
tyrosinase
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase a...
eukaryotic translation initiation factor 6
Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 s...
