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)
Last modified 5mo ago