Welcome to RareVarDB, a distinctive database dedicated to cataloging genetic variants associated with rare diseases. Our repository focuses on small variants, including SNPs and Indels, linked to a spectrum of rare genetic disorders. Users can effortlessly explore the database using disease names, gene names, or variant IDs, generating comprehensive results.
Upon conducting a search, the output provides a curated list of associated variants, enriched with key annotations sourced from prominent databases such as Orphanet, Omim, dbSNP, and ClinVar. This amalgamation of data empowers researchers, clinicians, and geneticists with seamless access to information on rare genetic disease variants. RareVarDB stands as a comprehensive platform, functioning as a centralized resource that offers detailed insights and variant annotations for over 1400 rare genetic diseases and 2600 genes. We invite you to explore our extensive collection and leverage RareVarDB as your go-to solution for navigating the intricacies of rare genetic diseases.Key Features of RareVarDB: