In SNP annotation, the effects of allele variations on each transcript are predicted using a rule-based approach as estimated by Ensemble. In particular,
- The sequence terms are defined by the Sequence Ontology (SO) (e.g., intron_variant), dbSNP (e.g., intron or INT). The terms are shown in the order of severity in the table .
- The location of each sequence term relative to the transcript structure is depicted in a diagram (Howe et al. 2021).
