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 an
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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 c
[Description truncada. Veja o README completo no GitHub.]
