Table 3.
Comparison of Autosomal SNPs by type and functional category
| Variant types | Djallonke | Sahelian |
|---|---|---|
| Functional class | ||
| Missense | 33,984 (40.7%) | 33,395 (40.5%) |
| Nonsense | 344 (0.41%) | 338 (0.41%) |
| Silent | 49,171 (58.9%) | 48,732 (59.1%) |
| Intergenic region | 8,861,516 | 8,747,769 |
| Upstream gene | 611,224 | 601,689 |
| Downstream gene | 605,975 | 596,609 |
| Intronic | 4,413,052 | 4,350,066 |
| Intragenic | 199 | 181 |
| 3 prime UTR | 29,548 | 28,988 |
| 5 prime UTR | 681 | 672 |
| 5 prime UTR Truncation | 2 | 2 |
| 5 prime UTR | 5412 | 5307 |
| Splice acceptor | 1507 | 1454 |
| Splice donor | 1640 | 1553 |
| Splice region | 14,544 | 14,262 |
| Exon Synonymous | 49,141 | 48,702 |
| Non synonymous | 33,902 | 33,313 |
| Non coding exon | 22,865 | 22,315 |
| Non coding transcript | 52 | 52 |
| Exon loss | 12 | 12 |
| Initiator codon | 7 | 8 |
| Start lost | 97 | 92 |
| Stop gained | 541 | 528 |
| Stop lost | 44 | 43 |
| Stop retained | 28 | 28 |
| Transcript ablation | 1 | 1 |
| In frame deletion | 349 | 330 |
| In frame insertion | 674 | 646 |
| Disruptive in frame deletion | 476 | 447 |
| Disruptive in frame insertion | 607 | 592 |
| Frameshift | 16,997 | 16,661 |