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’ [sic].
HintYou might find the perl split function useful: my ($name, $allele) = split(‘‐’, ‘rs9894429‐T’);
1000 genomes populations start with: ‘1000GENOMES’


AnswerAnja explains the answers to these questions in this 2 min video. You can also download her sample script and expected output.