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tooluniverse-gwas-snp-interpretation

Maintainer FreedomIntelligence · Last updated April 1, 2026

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 Al.

OpenClawNanoClawAnalysisReproductiontooluniverse-gwas-snp-interpretation🏥 medical & clinicalmedical toolsinterpret

Original source

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/tooluniverse-gwas-snp-interpretation

Maintainer: FreedomIntelligence
License: MIT
Last updated: April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Key Notes

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

Source Doc

Excerpt From SKILL.md

GWAS Catalog (EMBL-EBI)

SNP annotations: Functional consequences, mapped genes, population frequencies
Associations: P-values, effect sizes, study metadata
Coverage: 350,000+ publications, 670,000+ associations

Open Targets Genetics

Fine-mapping: Statistical credible sets from SuSiE, FINEMAP methods
L2G predictions: Machine learning-based gene prioritization
Colocalization: QTL evidence for causal genes
Coverage: UK Biobank, FinnGen, and other large cohorts

Required

rs_id (str): dbSNP rs identifier
- Format: "rs" + number (e.g., "rs7903146")
- Must be valid rsID in GWAS Catalog

Use cases

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".