Investigating sequence variation

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

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.

You can get to the variant tab by clicking on variants in the gene variant table, any of the sequence views for the gene or transcript, or from the region in detail view. You can also search directly for variants using rsIDs, COSMIC or phenotypes.

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.