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Phenotype Data

Diseases and traits that are associated with the variant of interest are shown on this page.

The different sources of this data can be found in the second column of the table and some examples are listed below:

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.

Quality data is indicated by gold and silver stars based on the clinical significance terms.

The website displays only phenotype association(s) that are significant i.e. with a low p-value. 

It is possible to retrieve the list of variations associated to the phenotypes in BioMart or their locations can be viewed on the karyotype.

Check the Variation - Source Documentation for a full list of sources of variation data currently available in Ensembl.