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gwas-database

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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.

When to use

• **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

When not to use

• The task requires de novo variant calling or genotype imputation (use specialized bioinformatics pipelines)
• The user needs fine-mapping or colocalization analysis (use dedicated tools)
• The query is about gene expression rather than genetic associations (use GTEx or expression databases)

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