Genetic Variation

Variant index

• GnomAD v2.1

Disease-associated loci sources (V2D)

• GWAS Catalog curated studies

• GWAS Catalog summary statistics

• Neale lab UK Biobank summary statistics

• SAIGE UK Biobank summary statistics

• FinnGen summary statistics

Haplotype reference samples

• 1000 Genomes Phase 3 - used for LD expansion

• UK Biobank genotypes - used for conditional analysis in top-loci detection, fine-mapping and colocalisation analyses (approved application).

Variant functional predictions

• In silico functional prediction

  • Variant-Effect Predictor (VEP): Most severe transcript consequence(s)