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Exploring human genetic variation

  • Overview
  • Search
  • Course Content
  • Where can I find human genetic variation data?
    • Variation data in Ensembl
    • UniProt variation and interpretation
    • GWAS Catalog
    • European Genome-Phenome Archive (EGA)
    • European Variation Archive (EVA)
  • How do I interpret genetic variants?
    • The MANE Collaboration
    • Variation Effect Predictor (VEP)
    • DECIPHER – Mapping the Clinical Genome
    • Catalogue of Somatic Mutations in Cancer (COSMIC)
  • Trainers biographies
  • Further learning
  • Technical help sheet
  • Your feedback

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All materials are free cultural works licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license, except where further licensing details are provided.

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How do I interpret genetic variants?

This section will help you to understand and interpret human genetic variation.

  • The MANE Collaboration
  • Variation Effect Predictor (VEP)
  • DECIPHER – Mapping the Clinical Genome
  • Catalogue of Somatic Mutations in Cancer (COSMIC)

Proceed through this section to view materials on all these topics or select a specific session from the above list to jump ahead.

  • page navigation-left-circle-1_1 European Variation Archive (EVA)
  • pageThe MANE Collaboration navigation-right-circle-1_1