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gwas-snp-interpretation

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ToolUniverse workflow — Gwas Snp Interpretation

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---
name: tooluniverse-gwas-snp-interpretation
description: 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".
---

# GWAS SNP Interpretation Skill

## Overview

Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple sources to provide comprehensive clinical and biological context.

**Use Cases:**
- "Interpret rs7903146" (TCF7L2 diabetes variant)
- "What diseases is rs429358 associated with?" (APOE Alzheimer's variant)