Table 2.
Type of event | 997 SNPs | 539 SNPs | ||||
---|---|---|---|---|---|---|
Alzheimer's associated | Control | Ratio | Breast cancer associated | Control | Ratio | |
Predicted exon corresponding to an annotated exon disappears | 0 | 2 | 0 | 0 | 0 | - |
Predicted exon corresponding to an annotated exon changes a score | 43 | 12 | 3.58 | 11 | 2 | 5.5 |
Predicted exon sharing a SS with an annotated exon changes a score | 242 | 78 | 3.10 | 59 | 29 | 2.03 |
Predicted exon sharing a SS with an annotated exon disappears | 23 | 4 | 5.75 | 6 | 1 | 6.00 |
New predicted cryptic exon is created sharing a SS with with an annotated exon | 26 | 9 | 2.89 | 5 | 1 | 5.00 |
Predicted exon disappears | 50 | 49 | 1.02 | 30 | 17 | 1.76 |
New predicted cryptic exon is created | 50 | 46 | 1.08 | 24 | 25 | 0.96 |
Comparison is made in context of known annotated reference exons. Not all the originally available SNPs associated with a disorder mapped to loci of protein coding genes, therefore number of SNPs reported here is lower than originally obtained [see Subsection Constructing the test set].