Phenotype and disease

The 'phenotype data' view shows associations to diseases and phenotypes for variants.
Figure 30. The first three rows of the phenotype data table for rs1333049


In Figure 30, the variant rs1333049 is shown to be associated with Coronary Artery Disease by the NHGRI-EBI GWAS catalog. Click on the Europe PMC 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.