tooluniverse-gwas-snp-interpretation
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".
npx skills add BioTender-max/awesome-bio-agent-skills --skill tooluniverse-gwas-snp-interpretation --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
# 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) 4. **Gene Mapping**: Uses Locus-to-Gene (L2G) predictions to identify likely causal genes 5. **Clinical Summary**: Aggregates evidence into actionable clinical significance ## Workflow ``` User Input: rs7903146 ↓ [1] SNP Lookup → Get location, consequence, MAF → gwas_get_snp_by_id ↓ [2] Association Search → Find all t
- Overview
- What It Does
- Workflow
- Data Sources
- GWAS Catalog (EMBL-EBI)
- Open Targets Genetics
- Input Parameters
- Required
- Optional
- Output Format
- 1. SNP Basic Info
- 2. Trait Associations
- 3. Credible Sets (Fine-Mapping)
- 4. Clinical Significance
What does the tooluniverse-gwas-snp-interpretation skill do?
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".
How do I install it?
Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill tooluniverse-gwas-snp-interpretation --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From BioTender-max/awesome-bio-agent-skills, a repository with 135 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.