PheLiGe: an interactive database of billions of human genotype-phenotype associations

Tatiana I Shashkova, Eugene D Pakhomov, Denis D Gorev, Lennart C Karssen, Peter K Joshi, Yurii S Aulchenko

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Genome-wide association studies have provided a vast array of publicly available SNP × phenotype association results. However, they are often in disparate repositories and formats, making downstream analyses difficult and time consuming. PheLiGe ( is a database that provides easy access to such results via a web interface. The underlying database currently stores >75 billion genotype-phenotype associations from 7347 genome-wide and 1.2 million region-wide (e.g. cis-eQTL) association scans. The web interface allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question. Furthermore, PheLiGe can compare regional patterns of association between different traits. This analysis can ascertain whether a co-association is due to pleiotropy or linkage. Moreover, comparison of association patterns for a complex trait of interest and gene expression and protein levels can implicate causal genes.

Original languageEnglish
JournalNucleic Acids Research
Early online date27 Nov 2020
Publication statusE-pub ahead of print - 27 Nov 2020


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