skin/hair/eye pigmentation variability (SHEP)

Epidemiology

• hair, eye & skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range subject to substantial geographic stratification
• in the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator
• by contrast, the majority of variation in human eye & hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes & black hair

Genetics

• type 1 associated with variations in OCA2
• type 2 associated with variations in MC1R
• type 5 associated with variations in SLC45A2
• type 5 associated with variations in SLC24A4
• type 7 associated with variations in KITLG
• type 9 associated with variations in ASIP

More general terms

• genetic polymorphism

Database

• OMIM: https://mirror.omim.org/entry/227220
• OMIM: https://mirror.omim.org/entry/227240
• OMIM: https://mirror.omim.org/entry/266300
• OMIM: https://mirror.omim.org/entry/611664
• OMIM: https://mirror.omim.org/entry/611742
• OMIM: https://mirror.omim.org/entry/210750