Investigating sequence variation

The variation tab for rs123

Figure 28. The variation tab for rs123.

The variation tab provides a wealth of information about a SNP, insertion, deletion, copy number variant, or somatic mutation (Figure 28).

We will explore:

  • The genomic sequence in the region of a variant
  • Genes and transcripts associated with a SNP of interest
  • Population frequencies
  • Associated diseases and phenotypes

For more about variation, including sources of information, see 'Exploring the sources of biological data'? For more extensive background, have a look at the variation documentation.

InformationThe Variant Effect Predictor is a popular tool that allows you to upload your own variations and calculate any effect on transcripts and proteins in Ensembl. See the tools section for more.