What is an rsID?

The dbSNP database, maintained by the National Center for Biotechnology Information (NCBI), has cataloged over 660 million human SNPs as of 2024. Each submission is assigned an rsID that remains stable across database builds, making it a reliable cross-reference. When a new variant is discovered and submitted, dbSNP checks whether it overlaps with an existing entry; if so, the existing rsID is used. This prevents duplication and ensures that the same variant always has the same identifier regardless of which research group discovered it or which genotyping platform detected it.

rsIDs are essential in clinical pharmacogenomics. Genetic test results from companies like 23andMe, AncestryDNA, or clinical pharmacogenomic panels report genotypes using rsIDs. A result like 'rs3892097 AG' tells a clinician that the patient is heterozygous for the CYP2D6*4 allele, which has implications for metabolizing drugs like codeine and tamoxifen. Clinical guidelines from CPIC and DPWG reference specific rsIDs when providing genotype-to-phenotype translations and dosing recommendations.

PepFold accepts rsIDs as its primary input format. Users enter between 1 and 20 rsIDs, and the pipeline resolves each one through ClinVar and UniProt to build a complete pharmacogenomic profile. The rsID-first approach means researchers and clinicians can go directly from a genetic test result to a peptide design report without manual variant annotation. Each rsID in the system links to a dedicated page with variant details, gene context, condition associations, and peptide design relevance.