gwas-database

Name: gwas-database
Availability: InStock
Author: robinbarvaag

Query the NHGRI-EBI GWAS Catalog for SNP-trait associations by rs ID, disease, or gene.

Updated Jan 10, 2026

Search Tags:#bioinformatics #genetics #gwas #snp #trait association #genomic data

Ready to run

npx skills add https://github.com/robinbarvaag/poynt --skill gwas-database-robinbarvaag

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: gwas-database
Source: https://github.com/robinbarvaag/poynt/tree/main/.github/skills/gwas-database
Command: npx skills add https://github.com/robinbarvaag/poynt --skill gwas-database-robinbarvaag

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill provides access to the NHGRI-EBI GWAS Catalog, enabling users to query for SNP-trait associations, retrieve p-values, and obtain summary statistics, thereby streamlining genetic epidemiology research.

Core Features & Use Cases

SNP-Trait Association Lookup: Find genetic variants associated with specific diseases or traits.
Variant Information Retrieval: Get details for specific SNPs (rs IDs), including their genomic location and associated traits.
Summary Statistics Access: Download or query full summary statistics for published GWAS.
Use Case: A researcher investigating the genetic basis of Type 2 Diabetes can use this Skill to find all associated SNPs, their p-values, and effect sizes, and then download summary statistics for further analysis.

Quick Start

Use the gwas-database skill to find all associations for the trait 'EFO_0001360'.

Frequently Asked Questions about gwas-database

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

FAQPage Schema

How do I find SNP-trait associations for a specific disease using the GWAS Catalog?▼

To find SNP-trait associations, query the GWAS Catalog by disease, trait, or gene to retrieve associated variants. You can search using trait identifiers like 'EFO_0001360' to locate all matching genetic associations and their relevant genomic data.

How do I retrieve p-values and effect sizes for a specific rs ID?▼

Retrieve p-values and effect sizes for a specific rs ID by querying the NHGRI-EBI GWAS Catalog. The Skill searches variants by their rs ID and returns summary statistics, providing the exact p-values and effect sizes for your genetic epidemiology research.

Can I download full summary statistics for published GWAS through this Skill?▼

Yes, you can download or query full summary statistics for published GWAS. The Skill accesses the NHGRI-EBI GWAS Catalog to retrieve complete summary statistics, enabling downstream analysis and polygenic risk score development.

Does this Skill provide Python examples for integrating GWAS data retrieval?▼

Yes, this Skill provides Python examples for integrating GWAS data retrieval. It utilizes REST APIs for data retrieval from the GWAS Catalog, supplying code examples to help you programmatically access SNP-trait associations and summary statistics.

What is the best way to query genomic data for polygenic risk score development?▼

The best way to query genomic data for polygenic risk score development is to search the GWAS Catalog for SNP-trait associations. You can retrieve necessary p-values, effect sizes, and full summary statistics by querying variants associated with your target trait.

Can I search for genetic variants by gene name in the GWAS Catalog?▼

Yes, you can search for genetic variants by gene name in the GWAS Catalog. The Skill enables users to search variants by rs ID, disease trait, or specific gene, retrieving all associated SNP-trait associations and their summary statistics.