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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 [4] - type 9 associated with variations in ASIP [5]

General

genetic polymorphism

Database Correlations

OMIM correlations

References

  1. OMIM :accession 227220
  2. OMIM :accession 227240
  3. OMIM :accession 266300
  4. OMIM :accession 611664
  5. OMIM :accession 611742
  6. OMIM :accession 210750