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Definition

A type of mutation that contributes towards a disease phenotype (clinical signs and symptoms), but is not causative on its own.

Use in clinical context

Most phenotypes are not caused by a single genetic variant but several genetic variants, often combined with environmental effects, for example Type 2 diabetes. There are many known risk factors for developing the disease, with obesity being a large contributing factor, but not everyone who is overweight develops diabetes. It is likely that along with such environmental risk factors there are disease-modifying variants that predispose, or protect individuals from diseases.

Last updated on 31st May, 2019