What is PharmGKB?

PharmGKB is an NIH-funded resource that provides information about how human genetic variation affects response to medications. PharmGKB collects, curates and disseminates knowledge about clinically actionable gene-drug associations and genotype-phenotype relationships. When using PharmGKB, you will see different types of information. These are detailed in the sections below.
Prescribing Information
Drug Label Annotations
Genotype Selection Interface
Curated Pathways
Clinical Annotations
Variant Annotations
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Clinical Annotations

Clinical annotations summarize all of PharmGKB's annotations of published evidence for the relationship between a particular genetic variant(opens in new window) and a medication. They are given a Level of Evidence(opens in new window) by PharmGKB depending on how much published evidence there is for a relationship found in PharmGKB, and the quality of that evidence.

Clinical annotations are based on variant annotations, and are created by PharmGKB curators by bringing together all the variant annotations that discuss the same genetic variant and same medication response. Once the curators bring all the variant annotations available in PharmGKB together, they write a short summary that describes the findings of these variant annotations. The clinical annotation is also given a score(opens in new window) based on the score(opens in new window) of all the supporting variant annotations. The clinical annotation score is used by PharmGKB curators when assigning a Level of Evidence to the annotation. The Level of Evidence takes into account factors such as the number of variant annotations showing a positive versus negative result and how many patients were included in studies. When a new variant annotation is added to a clinical annotation, the score is recalculated and curators re-assess the Level of Evidence, which can increase or decrease based on the results.