About dbSNP

Overview

The Single Nucleotide Polymorphism Database (dbSNP), maintained by the National Center for Biotechnology Information (NCBI), is a comprehensive repository for genetic variation data. Since its inception in 1998, dbSNP has grown from cataloging single nucleotide polymorphisms (SNPs) to including small insertions, deletions (indels), microsatellites, and other small structural variations.

dbSNP supports global research initiatives in genome-wide association studies (GWAS), population genetics, pharmacogenomics, and precision medicine. Integrating data from major projects such as 1000 Genomes, gnomAD, and ALFA, dbSNP facilitates the exploration of genetic diversity and disease-associated variants.

To learn more about the history, evolution, and impact of dbSNP, read the dbSNP 25th Anniversary Publication, which highlights its critical contributions to genomics research and its vision for the future.

Key Features

• Comprehensive Data: Over 1.1 billion reference SNPs cataloged, representing common and rare genetic variations.
• Modern Tools: RefSNP web reports, APIs, and FTP downloads enable efficient access and analysis.
• Integration with Research: Supports discoveries in human genetics, evolutionary biology, and clinical diagnostics.

Quick Start: Data Submission

1. Prepare Data: Use Variant Call Format (VCF) and include metadata like allele frequency and sample details.
2. Submit Data: Follow the Submission Guide for step-by-step instructions.

Quick Start: Data Access

Search for Variants

Use the dbSNP Entrez search to locate variants based on criteria such as genomic region, clinical significance, or allele frequency.
Learn more about search syntax.

RefSNP Pages

View detailed variant information, including allele frequencies and functional annotations.
Example: RefSNP rs268.

FTP Downloads

Access large-scale data in JSON or VCF formats from the dbSNP FTP portal.

Programmatic Access

• E-utilities API: Retrieve data programmatically with detailed query options.
  Learn more.
• Variation Services API: Perform complex queries, batch analyses, and variant normalization.
  Learn more.

Visit dbSNP to start exploring genetic variation data.