PhenoScanner: a database of human genotype–phenotype associations
University of Cambridge · Wellcome Sanger Institute · +1 more institution
Abstract
PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate 'phenome scans', the cross-referencing of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology. The database currently contains over 350 million association results and over 10 million unique genetic variants, mostly single nucleotide polymorphisms. It is accompanied by a web-based tool that queries the database for associations with user-specified variants, providing results according to the same effect and non-effect alleles for each input variant. The tool provides the option of searching for trait associations with proxies of…
Citation impact
- FWCI
- 64.88
- Percentile
- 100%
- References
- 10
Authors
12Topics & keywords
- International HapMap Project
- Phenome
- Genome-wide association study
- Single-nucleotide polymorphism
- Genetic association
- Biology
- Database
- Trait