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tooluniverse-gwas-snp-interpretation

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Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".

When not to use

• **Variant ID Conversion**: OpenTargets requires chr_pos_ref_alt format, which may need allele lookup
• **Population Specificity**: Associations may vary by ancestry
• **Effect Sizes**: Beta values are study-dependent (different phenotype scales)
• **Causality**: Associations don't prove causation; fine-mapping improves confidence
• **Currency**: Data reflects published GWAS; latest studies may not be included

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