tooluniverse-gwas-snp-interpretation

tooluniverse-gwas-snp-interpretation is a skill for Claude Code, Codex from AndyZhuang/Opentest. It costs 110 tokens per session (1,918 once invoked), scanned A, original, MIT.

A research workflow for interpreting SNPs, which are single-letter differences in DNA, using genetic, disease, and clinical databases.

In plain words
What is it for?
Use it to retrieve variant annotations, find GWAS associations, check fine-mapping evidence, identify likely genes, and summarize clinical significance.
Why use it?
A variant ID alone does not explain where it occurs, what traits it relates to, or how strong the supporting evidence is.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one.

Good fit Use it to retrieve variant annotations, find GWAS associations, check fine-mapping evidence, identify likely genes, and summarize clinical significance.

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Install with agentmods
npx agentmods add skills/andyzhuang/opentest/tooluniverse-gwas-snp-interpretation
Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add AndyZhuang/Opentest --skill tooluniverse-gwas-snp-interpretation
Clone the repo
git clone --depth 1 https://github.com/AndyZhuang/Opentest

Made for: Claude Code, Codex.

Wrote this? Show the measurements

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README.md
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<a href="https://agentmods.dev/skills/andyzhuang/opentest/tooluniverse-gwas-snp-interpretation"><img src="https://agentmods.dev/badge/skills/andyzhuang/opentest/tooluniverse-gwas-snp-interpretation.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 110 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 1,918 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe.
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00110 $0.01918
Opus 5 $0.00055 $0.00959
Sonnet 5 $0.00022 $0.00384
Haiku 4.5 $0.00011 $0.00192

Measured 9d ago against content hash 29e6795301d2, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

tooluniverse-gwas-snp-interpretation scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 9d ago.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

skills/labclaw/bio/tooluniverse-gwas-snp-interpretation/SKILL.md · 224 lines

How it starts

The opening of the file, as written. The whole thing — 224 lines — stays where its author put it; the contents beside it link to each section on GitHub.

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 trait/disease associations
    → gwas_get_associations_for_snp
    ↓
[3] Fine-Mapping (Optional)
    → Get credible set membership
    → OpenTargets_get_variant_credible_sets
    ↓
[4] Gene Predictions
    → Extract L2G scores for causal genes
    → (embedded in credible sets)
    ↓
[5] Clinical Summary
    → Aggregate evidence
    → Identify key traits and genes
    ↓
Output: Comprehensive Interpretation Report

Data Sources

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

Read the full file on GitHub · 224 lines

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 9d ago First seen · 224 lines · 110 tokens per session scan A 29e6795301d2

Subscribe to this mod's changes

tooluniverse-gwas-snp-interpretation is a skill published in the GitHub repository AndyZhuang/Opentest (22 stars, last pushed 6mo ago), licensed MIT. It adds 110 tokens to every session and 1,918 once invoked, about $0.0006 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.

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