HumanEnsembl Home

Phenotype Data

Example page

For the top panel describing variation details such as source and class, see this help page.

Diseases and traits that are associated with the variant of interest are shown on this page. The sources of these associations are listed in the second column and include:

The reported gene comes directly from the specific study, as do the associated allele, P value, odds ratio and beta coefficient (if available). These are genes that were reported in the paper as being associated with this GWAS variant- see the PubMed link.

Quality data is indicated by gold and silver stars.  Find out more about this quality annotation and clinical significance in this help page.

It is possible to retrieve the list of variations associated to the COSMIC phenotypes in BioMart whenever this list is greater than 250. Otherwise it can be seen on the Karyotype view.

The website displays only significant phenotype association(s) (i.e. with a low p-value, if provided).