title: Pathogenic: light or dark skin?
abstract: Currently, we use the term "pathogenicity" to indicate whether a variant in a gene has an influence on the phenotype or not. As this term is confusing, not neutral, and incorrectly refers to a disease state, it seems better to use a more neutral term. The suggestion is to use "affects function."
authors.affiliation: Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
mesh_terms: D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D010860:Pigments, Biological / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012867:Skin
chemical_list: D010860:Pigments, Biological
keywords: classification; database; genetics; mutation; pathogenicity; variant