dbsnp

dbsnp 0.0.1

dbSNP, the Single Nucleotide Polymorphism Database, is a comprehensive public archive hosted by the National Center for Biotechnology Information (NCBI) at https://www.ncbi.nlm.nih.gov/snp/, cataloging genetic variations such as single nucleotide polymorphisms (SNPs), insertions/deletions (indels), and short tandem repeats across human and other species. Updated regularly, with Build 156 released in August 2023, it contains over 1 billion reference SNPs (RefSNPs or rsIDs), integrating data from genomic sequencing projects and user submissions. Users can annotate variants with rich metadata, including allele frequencies (via the ALFA project), genomic coordinates (hg19/hg38), functional consequences, and clinical significance from ClinVar, accessible through RefSNP pages, downloadable files (e.g., VCF, JSON), or programmatic APIs. Ideal for genetic research, dbSNP supports variant discovery, population genetics, and disease association studies, offering tools like SNP Finder and Batch Query for efficient data retrieval and annotation. Note that dbSNP does not assess variant pathogenicity itself but provides raw data for further analysis.