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:
- COSMIC http://www.sanger.ac.uk/genetics/CGP/cosmic/
- ClinVar (Variants of clinical significance from ClinVar): http://www.ncbi.nlm.nih.gov/clinvar/
- dbGaP (The database of Genotypes and Phenotypes): http://www.ncbi.nlm.nih.gov/gap
- DDG2P (Developmental Disorders Genotype-to-Phenotype Database): http://decipher.sanger.ac.uk/
- EGA http://www.ebi.ac.uk/ega
- GIANT (Genetic Investigation of ANthropometric Traits ): http://www.broadinstitute.org/collaboration/giant/index.php/Main_Page
- HGMD-Public http://www.hgmd.cf.ac.uk/ac/index.php
- MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium): http://www.magicinvestigators.org/
- NHGRI http://www.genome.gov/gwastudies
- OMIM http://www.omim.org/
- OMIMGENE: http://www.omim.org/
- Orphanet (The portal for rare diseases and drugs): http://www.orpha.net/
- UniProt http://www.uniprot.org/
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.
Check the Variation - Source Documentation for a full list of sources of variation data currently available in Ensembl.