Total variant count: 58823134
from 1643 sequenced individuals
with contributions from  
The Variant Database, developed at the Australian National University, provides a web-based framework for exploring genetic variation across a range of diseases. This tool facilitates variant analysis enabling researchers to browse and prioritize variants that may be influential in disease pathogenesis.
Some of the key features are:
  • Brings together phenotype-genotype associations, cohort-based analysis, and family studies under one user-friendly interface.
  • Search and filter variants based on gene, patient ID, frequency, pathogencity, genetic coordinates, consequence, disease status, phenotypes and more
  • Genotype-to-phenotype and Phenotype-to-genotype based searching
  • Private access to variants are available through SSL encrypted authentication, segregated and shared with defined user groups.
  • Reports exportable to Excel format
  • VCF, BAM downloads
  • Exon coverage reports
  • Search profiles
  • Smart gene search
  • Health reports
  • IGV genome browser
  • Can scale to billions of variants
For more information about the database please contact Philip Wu at philip.wu@anu.edu.au

Screenshots

Search Search screenshot
Family trees Genogram screenshot
Filters Filters screenshot
Phenotype Filters Filters screenshot
IGV Genome Browser Filters screenshot