tooluniverse-gwas-snp-interpretation
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:
- SNP Annotation: Retrieves basic variant information including genomic coordinates, alleles, functional consequence, and mapped genes
- Association Discovery: Finds all GWAS trait/disease associations with statistical significance
- Fine-Mapping Evidence: Identifies credible sets the variant belongs to (fine-mapped causal loci)
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