Variant pages

The variant page provides an overarching description of the likely consequence of a variant, as well as population allele frequencies. You can explore information on:

• Variant effect, with a visual summary of the predictions from different in silico methods of whether the variant is likely benign or deleterious
  
• Nearby genes, to help understand the relationship between the variant and genes in the same region including distance genes, as well as the predicted consequence for each coding and non-coding canonical transcript in the region. For missense variants, you can also view the amino acid consequence for the respective UniProt protein.
  
• Associated phenotypes, across rare and common traits/diseases and drug response information. This includes GWAS credible sets, molQTL credible sets, ClinVar clinical submissions, Uniprot curated variants, and pharmacogenetics annotations from PharmGKB

Watch this video, recorded on 23 April 2025, for an overview of a variant page:

Explore the page: https://platform.opentargets.org/variant/19_44908822_C_T