Case study 1: variants in a gene (PKD1)

In this case study we will use the human gene polycystin 1, transient receptor potential channel interacting (PKD1), as a starting point for exploring genetic variation data.

First, you may want to find all open access genetic variants within PKD1. You can do this by searching for the gene symbol and filtering for coding variants in the EVA Variant browser

Using the EVA variant browser to search for PKD1 identifies 8186 variants from 17 studies (Figure 3).

Figure 3 Searching for PKD1 in the EVA variant browser (view in EVA).
The European Variation Archive (EVA) is a repository for genetic variation data at EMBL-EBI. To learn more about the EVA you can watch our webinar The European Variation Archive at EMBL-EBI.