A benchmark database for variations

Home | Instructions | Datasets | Citing | Disclaimer |

13. Dataset for common variations in various populations in ExAC


This dataset consists of 63,197 amino acid substitutions having allele frequencies ≥1% and <25% in any of the populations in the ExAC database. The variations and the allele frequencies were obtained from the ExAC database (release 0.3.1) . The predictions for various computational tools were obtained from dbNSFP database (version 3.2a) and PON-P2 Application Programming Interface (API). Please refer to the policies of the original resources for data usage and sharing.


  1. ExAC AAS data
  2. ClinVar test data

Reference: Niroula A, Vihinen M (2019) How good are pathogenicity predictors in detecting benign variants?. PLOS Computational Biology 15(2): e1006481.  PUBMED