Query NHGRI-EBI GWAS Catalog for SNP-trait associations. Search variants by rs ID, disease/trait, gene, retrieve p-values and summary statistics, for genetic epidemiology and polygenic risk scores.
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.
This skill should be used when queries involve:
The GWAS Catalog is organized around four core entities:
Key Identifiers:
GCST IDs (e.g., GCST001234)rs numbers (e.g., rs7903146) or variant_id formatThe web interface at https://www.ebi.ac.uk/gwas/ supports multiple search modes:
By Variant (rs ID):
rs7903146
Returns all trait associations for this SNP.
By Disease/Trait:
type 2 diabetes
Parkinson disease
body mass index
Returns all associated genetic variants.
By Gene:
APOE
TCF7L2
Returns variants in or near the gene region.
By Chromosomal Region: