Table 4.
Overall SNP Consequence | Redundant Genes Effected | OMIM Entries |
non-synonymous (damaging SNPs) | 803 | 859 |
stop-gained | 90 | 99 |
stop-lost | 14 | 15 |
splice-site | 114 | 116 |
frameshift | 36 | 37 |
Greater than 15% of genes containing at least one predicted functional SNP (splice site, frame shift, STOP-gain, STOP-lost, deleterious missense according to Polyphen) in the database have human orthologs found in the OMIM database of disease-associated mutations.