Phenotype and disease

Phenotype and disease associations

The 'phenotype data' view shows associations to diseases and phenotypes for variants.

The phenotype data table
Figure 33. The first two rows of the phenotype data table for rs1333049



In Figure 33, the variant rs1333049 is shown to be associated with Coronary Artery Disease by the Open Access GWAS Database. Click on the pubmed link under 'Study' in order to see a publication demonstrating the association.


InformationDid 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.