tooluniverse-gwas-snp-interpretation

tooluniverse-gwas-snp-interpretation is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 92 tokens per session (2,135 once invoked), scanned A, original, Apache-2.0.

A workflow for interpreting one genetic variant found in a GWAS, a study of genetic differences associated with traits or diseases. It checks nearby linked variants, gene regulation, clinical annotations, and population frequency.

In plain words
What is it for?
Use it to investigate what a variant may affect, identify better causal candidates, connect variants to genes, and review clinical or population evidence.
Why use it?
A lead variant in a GWAS region may only be tagging the true causal variant through linkage disequilibrium, meaning nearby variants are inherited together. The workflow helps separate association from possible mechanism.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter.

Part of the tooluniverse plugin — 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server shipped together

Good fit Use it to investigate what a variant may affect, identify better causal candidates, connect variants to genes, and review clinical or population evidence.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation
About the project

ToolUniverse is a collection of tools, interfaces, and supporting components for building AI systems that perform scientific work. It is for developers creating AI scientist agents that use APIs, databases, machine-learning tools, and domain-specific utilities. The catalogue includes skills, commands, an MCP server, an agent, and a hook for working with the ecosystem.

mims-harvard/ToolUniverse · 1,744 stars · on GitHub · aiscientist.tools

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 mims-harvard/ToolUniverse --skill tooluniverse-gwas-snp-interpretation
Clone the repo
git clone --depth 1 https://github.com/mims-harvard/ToolUniverse

Made for: Claude Code.

Or install tooluniverse, the plugin that ships this one along with the rest of its 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for tooluniverse-gwas-snp-interpretation

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for tooluniverse-gwas-snp-interpretation

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-gwas-snp-interpretation.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 92 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 2,135 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. Third-party audits
  • Socket pass 29 Mar 2026
  • Snyk warn 29 Mar 2026
  • NVIDIA SkillSpector pass 7 Sept 2026
How audits are shown
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 $0.00092 $0.02135
Opus 5.5 $0.00037 $0.00854
Sonnet 5.5 $0.00018 $0.00427
Haiku 4.5 $0.00009 $0.00214

Measured 1mo ago against content hash 77731a712ce3, method: parsed. Prices are Anthropic first-party input rates as of 2026-10-07, 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 1mo ago.

The scan reads SKILL.md. This mod also ships 1 executable file (python_implementation.py), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

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.

plugin/skills/tooluniverse-gwas-snp-interpretation/SKILL.md · 229 lines

How it starts

The opening of the file, as written. The whole thing — 229 lines — stays where its author put it; the contents beside it link to each section on GitHub.

GWAS SNP Interpretation Skill

SNP interpretation: a GWAS hit is a REGION, not a single causal variant. The lead SNP may not be causal — it may be in LD with the causal variant. Always check LD structure and functional annotation before concluding a specific SNP is mechanistically responsible. Use LDlink_get_proxies(variant="rs...", population="EUR") to retrieve the high-R² LD proxies (needs a free LDLINK_TOKEN) — a proxy in a coding/regulatory region is a better mechanistic candidate than the lead SNP itself. Fine-mapping (SuSiE, FINEMAP credible sets) narrows the causal set but rarely identifies a single variant with certainty. L2G scores integrate eQTL, chromatin interaction, and distance data to predict the causal gene — a lead SNP mapping to gene A may actually regulate gene B 500 kb away via a distal enhancer.

LOOK UP DON'T GUESS: never assume a SNP's functional consequence, mapped gene, or population frequency — always call gwas_get_snp_by_id and OpenTargets_get_variant_info to retrieve current annotations.

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

Read the full file on GitHub · 229 lines

Files

What ships with it

4 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

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. 1mo ago First seen · 229 lines · 92 tokens per session scan A 77731a712ce3

Subscribe to this mod's changes

tooluniverse-gwas-snp-interpretation is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,744 stars, last pushed yesterday), licensed Apache-2.0. It adds 92 tokens to every session and 2,135 once invoked, about $0.0004 per session on Opus 5.5. 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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