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:
- 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 most associated allele and P value. 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.
The website displays only significant phenotype association(s) (i.e. with a low p-value, if provided). Non significant phenotype associations are available through the Ensembl Variation databases or the Ensembl Variation Perl API.