GWAS catalog

A GWAS identifies genetic loci associated with common traits and disease through the analysis of categorized variants across the genome and the catalog provides information from all published GWAS results that meet its criteria. The catalog contains publication information, study groups information (origin, size) and SNP-disease association information (including SNP identifier, P-value, gene and risk allele). Over the years, the GWAS catalog has enhanced its data release frequency by adding features such as graphical user interface, ontology-supported search functionality and a curation interface.

The GWAS catalog is widely used to identify causal variants and understand disease mechanisms by biologists, bioinformaticians and other researchers. Some GWAS identified common genomic loci that are associated diseases include: cardiovascular disease, inflammatory bowel disease, type 2 diabetes and breast cancer.

Accessibility of data

The public can gain access to the GWAS Catalog’ s data in three ways:

1. The NHGRI web interface’s search: provide information on traits and study publication and an tab-delimited file that is available for download.
2. Interactive interface: provide a visualization of all SNP-associated traits in the GWAS catalog as well as SNPs’ positions on human chromosomes. And all SNPs are associated with a particular trait are displayed with web links to related literature from different databases.
3. Ensembl, the UCSC Genome Browser, the PheGenI and other data portals provide access to the GWAS catalog through providing web links.