tooluniverse-gwas-snp-interpretation

Installation
SKILL.md

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)
  • "Clinical significance of rs1801133" (MTHFR variant)
  • "Is rs12913832 in any fine-mapped loci?" (Eye color variant)

What It Does

The skill provides a comprehensive interpretation of SNPs by:

  1. SNP Annotation: Retrieves basic variant information including genomic coordinates, alleles, functional consequence, and mapped genes
  2. Association Discovery: Finds all GWAS trait/disease associations with statistical significance
  3. Fine-Mapping Evidence: Identifies credible sets the variant belongs to (fine-mapped causal loci)
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wu-yc/labclaw
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993
First Seen
Mar 15, 2026