Phenotype

In this presentation, you will find out about retrieving phenotype data from Ensembl.

Exercise 5

  • Find all phenotypes associated with the human SNP named rs12913832 and give:
    • Phenotype description, source and p‐value
    • Find frequencies in 1000 Genomes populations for the (risk) allele assosicated with phenotype ‘Eye color’

      Hint: You might find the perl split function useful: my ($name, $allele) = split(‘‐’, ‘rs9894429‐T’); 1000 genomes populations start with: ‘1000GENOMES’
Anja explains the answers to these questions in this 2-minute video.
You can also download her sample script and expected output.