- Course overview
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- Why Ensembl?
- What is Ensembl?
- When to use Ensembl
- How to access Ensembl
- How to search Ensembl
- How to search Ensembl
- How to search Ensembl
- Exploring sources of biological data
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Phenotype and disease
The ‘phenotype data’ view shows associations to diseases and phenotypes for variants.
In Figure 32, the variant rs1333049 is shown to be associated with Coronary Artery Disease by the NHGRI-EBI GWAS catalog. Click on PMID: 24262325 under ‘external reference’ in order to see a publication demonstrating the association.
 Did you know? You can search Ensembl with a disease or phenotype to find associated genes and sequence variants. Try it! Can you find a SNP phenotype? Go to this exercise to find out. |