Genomics · Database
GWAS Catalog
A curated database of human genome-wide association studies and variant–trait associations for biomedical research.
What GWAS Catalog is
The GWAS Catalog is an open database of human genome-wide association studies (GWAS). It was established in 2008 by the National Human Genome Research Institute (NHGRI) and has been maintained as a joint collaboration with the European Bioinformatics Institute (EMBL-EBI) since 2010.
Genome-wide association studies identify connections between common genetic variants across the genome and specific phenotypic traits or diseases. The catalogue addresses the challenge of fragmented, unstructured literature results by extracting, structuring, and standardising published GWAS findings that meet specific quality criteria.
The repository houses publication data, cohort sample descriptions, and detailed single-nucleotide polymorphism (SNP)–trait associations, including variant identifiers, risk alleles, mapped genes, and p-values. As of 2025, it holds more than 1,040,000 reported associations across over 7,400 publications, alongside tens of thousands of full summary-statistics datasets.
How it is organised
Literature publications are reviewed and curated to extract study groups, cohort sizes, ancestry or origin details, and specific SNP-disease associations with reported p-values and risk alleles. The curated data are mapped to reference genome assemblies and dbSNP builds, with population descriptors standardised according to structured data extraction protocols.
Data are searchable using ontology-supported querying and an interactive graphical interface. Users can access records through web queries, downloadable spreadsheets, an interactive diagram showing associations with genome-wide significance (p ≤ 5 × 10⁻⁸), and a programmatic REST API (v2.0). Authors can also submit full genome-wide summary statistics directly to the repository.
Key facts
- Initial release
- 2008
- Curated publications
- Over 7,400 (as of 2025)
- Reported associations
- Over 1,040,000 SNP-trait associations (as of 2025)
- Full summary statistics
- Tens of thousands of datasets
- Diagram significance threshold
- p ≤ 5 × 10⁻⁸
- Programmatic interface
- REST API v2.0
- Data export formats
- Spreadsheet and SVG (diagram)
What you can use it for
- Investigating disease-associated loci
- Identifying candidate causal variants and genomic loci associated with conditions such as cardiovascular disease, type 2 diabetes, inflammatory bowel disease, and breast cancer.
- Re-analysis and meta-analysis
- Accessing and downloading tens of thousands of full genome-wide summary-statistics datasets to conduct secondary association analyses and meta-analyses.
- SNP marker selection
- Using curated variant–trait records as a reference pool of markers for designing targeted single-nucleotide polymorphism studies.
- Trait heritability research
- Examining aggregated genetic association findings across studies to evaluate the genetic architecture and heritability of human phenotypic traits.
Query it here
The research agent queries GWAS Catalog directly — no account, no API key — and every answer links back to the record it came from. Ask in plain language and it writes the query.
Strengths and limits
Good at
- Standardises unstructured association data from thousands of published studies into a searchable, uniform format.
- Provides access to tens of thousands of complete genome-wide summary-statistics datasets alongside top reported associations.
- Supports automated workflows and integrations through a dedicated REST API.
- Features an interactive diagram mapping all SNP-trait associations meeting genome-wide significance.
Watch out for
- Full summary statistics are only available for studies where authors or repositories have supplied the datasets.
- The interactive visualization diagram is restricted to associations meeting the p ≤ 5 × 10⁻⁸ genome-wide significance threshold.
- Coverage is confined to published human association studies meeting specific inclusion criteria rather than non-human organisms.
Questions
Can I search GWAS Catalog without writing code?
Yes. The research agent queries GWAS Catalog directly, with no account or API key, and cites the record behind every answer. Ask in plain language — for a gene, a protein, a compound or a study — and it builds the query for you.
Can I reuse data from GWAS Catalog?
CC0 1.0. Terms: https://www.ebi.ac.uk/gwas/docs/about
What information is captured for each reported genetic association?
Each association record includes the SNP identifier, risk allele, associated gene, p-value, and study cohort details such as sample size and population origin.
How can the database be queried programmatically?
Users can access and query records programmatically using the GWAS Catalog REST API v2.0.
What threshold is used for the interactive association diagram?
The interactive diagram displays SNP-trait associations that attain genome-wide significance at p ≤ 5 × 10⁻⁸.
Can researchers submit their own data to the repository?
Yes, researchers can submit full genome-wide summary statistics directly to the GWAS Catalog.
Written from GWAS Catalog's own website and reference material. Statements citing a figure that does not appear there are removed before publication. Licence and running details come from our registry.