ClinVar Resource

Description ClinVar is a collection of reports of associations between genetic variants documented in dbSNP or dbVar and clinically relevant phenotypes. Each entry reports an association, its supporting evidence, and other annotations. Data are collected from clinical tests, research studies, and literature curation. Only GWAS that have been reviewed and annotated with information about clinical relevance are included. Phenotypes are mapped to MedGen concepts.
Citation(s)
External Link http://www.ncbi.nlm.nih.gov/clinvar/

Datasets

Dataset Description Category Attribute Views
Gene-Phenotype Associations SNP-phenotype associations curated by ClinVar users from various sources disease or phenotype associations phenotype 181