GWAS Catalog Database

Overview

The GWAS Catalog is a comprehensive repository of published genome-wide association studies maintained by the National Human Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EBI). The catalog contains curated SNP-trait associations from thousands of GWAS publications, including genetic variants, associated traits and diseases, p-values, effect sizes, and full summary statistics for many studies.

When to Use This Skill

This skill should be used when queries involve:

• Genetic variant associations: Finding SNPs associated with diseases or traits
• SNP lookups: Retrieving information about specific genetic variants (rs IDs)
• Trait/disease searches: Discovering genetic associations for phenotypes
• Gene associations: Finding variants in or near specific genes
• GWAS summary statistics: Accessing complete genome-wide association data
• Study metadata: Retrieving publication and cohort information
• Population genetics: Exploring ancestry-specific associations
• Polygenic risk scores: Identifying variants for risk prediction models
• Functional genomics: Understanding variant effects and genomic context