PhenoScanner is a curated database holding publicly available results from large-scale genetic association studies. The motivation for creating this tool is to facilitate “phenome scans”, the cross-referencing of genetic variants with a broad range of phenotypes, to help aid the understanding of disease pathways and biology. The catalogue currently contains nearly 3 billion association results and over 10 million unique single nucleotide polymorphisms (SNPs). It is accompanied by a web-based tool that searches the database for associations with the user-specified SNPs. The tool provides the option of searching for trait associations with proxies of the SNPs of interest, calculated using 1000 Genomes phase 3 and Hapmap2. Importantly, all association results are aligned according to the alleles of each input SNP including any associations with proxy SNPs.
PhenoScanner is available at www.phenoscanner.medschl.cam.ac.uk