Open Targets Genetics Documentation
  • Introduction
  • Release notes
  • Change log
  • FAQs
  • Future Plans
  • Licence
  • Citation
  • Terms of Use
  • Our Approach
    • Overview
    • Assigning Variants to Disease (V2D)
    • Assigning Variants to Genes (V2G)
    • Prioritising causal genes at GWAS loci (L2G)
    • Colocalisation analysis
    • Data Sources
      • Genetic Variation
        • FinnGen
      • Molecular Traits
        • Splice QTLs
      • Others
  • How To Use Open Targets Genetics starting with
    • A Gene
    • A Study (Trait)
    • Multiple Studies
    • A Variant
    • Introducing the Locus Plot
  • Technical Pipeline
    • What Technologies Do We Use?
    • GitHub Repositories
    • Pipeline schematic overview
  • Meetings
    • ESHG Workshop 2019
    • ASHG Workshop 2018
  • Data access
    • Data Download
    • GraphQL API
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  1. Our Approach
  2. Data Sources

Genetic Variation

PreviousData SourcesNextFinnGen

Last updated 2 years ago

Variant index

Disease-associated loci sources (V2D)

Haplotype reference samples

  • - used for LD expansion

  • - used for conditional analysis in top-loci detection, fine-mapping and colocalisation analyses ().

Variant functional predictions

  • In silico functional prediction

    • : Most severe transcript consequence(s)

GnomAD v2.1
GWAS Catalog curated studies
GWAS Catalog summary statistics
Neale lab UK Biobank summary statistics
SAIGE UK Biobank summary statistics
FinnGen summary statistics
1000 Genomes Phase 3
UK Biobank genotypes
approved application
Variant-Effect Predictor (VEP)