How we did it

Steps

 

  1. Go to the Ensembl homepage
  2. Enter rs3748816 in the search box.
  3. Click through to the variation tab (see the section 'How to search Ensembl' for more information).
  4. Click on the phenotype data link at the left of the variation tab.
 

In release 63, the only phenotype associated to this variation was Celiac disease.

image

The association came from the NHGRI GWAS catalog, and the pubmed ID for the publication was 20190752.