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gwas-database

Retrieve SNP-trait associations from the NHGRI-EBI GWAS Catalog by variant, trait, or gene.

1|Updated Mar 19, 2026
Search Tags:#catalog#associations#summary-statistics#variants#gwas#rsid
One-click install
npx skills add https://github.com/JosephWoodall/noosphere --skill gwas-database-josephwoodall
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/JosephWoodall/noosphere/tree/main/.agent/skills/gwas-database
Command: npx skills add https://github.com/JosephWoodall/noosphere --skill gwas-database-josephwoodall

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This skill enables researchers to quickly discover and retrieve SNP-trait associations from the NHGRI-EBI GWAS Catalog, including variant-level data and study statistics, reducing manual lookup effort.

Core Features & Use Cases

  • Query by variant rsID to fetch associations across traits and studies.
  • Search by disease/trait (EFO terms) to identify associated variants and studies.
  • Search by gene to identify variants in or near a gene and access summary statistics.
  • Retrieve p-values, odds ratios (or beta), and linked study metadata for downstream analyses and polygenic risk scoring.

Quick Start

Query the GWAS Catalog for a given rsID, trait, or gene to retrieve all associations and summary statistics.

Frequently Asked Questions about gwas-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query the GWAS Catalog for SNP-trait associations by rsID?▼

Query the GWAS Catalog by variant rsID to fetch all SNP-trait associations across studies, returning rsId, strongestAllele, pvalue, orPerCopyNum/betaNum, efoTrait, and studyId for downstream genetic epidemiology analysis.

Can I search the NHGRI-EBI GWAS Catalog by disease or EFO trait term?▼

Yes, you can search the GWAS Catalog by disease or trait using EFO terms to identify associated variants and studies, retrieving p-values, odds ratios, and linked study metadata for downstream polygenic risk scoring.

What data is needed to retrieve study-level statistics for polygenic risk scoring?▼

Polygenic risk scoring requires summary statistics from the GWAS Catalog, including pvalue, orPerCopyNum or betaNum, strongestAllele, and studyId, all retrievable by querying variant rsID, EFO trait, or gene.

Does this GWAS Catalog query tool support gene-based variant lookups?▼

Yes, searching by gene identifies variants in or near a gene and retrieves associated summary statistics from the NHGRI-EBI GWAS Catalog, including p-values, odds ratios, and EFO trait mappings for genetic epidemiology workflows.

What is the best way to automate GWAS summary statistics retrieval for multiple variants?▼

Automate GWAS summary statistics retrieval by querying the NHGRI-EBI Catalog programmatically by rsID, trait, or gene, which returns structured fields like rsId, pvalue, betaNum, and studyId suitable for automated processing pipelines.

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