pISSN: 2671-4639
eISSN: 2671-4663
pISSN: 2671-4639
eISSN: 2671-4663
Number of SNPs classified by sequence ontology term after annotation
| Sequence ontology term | Putative impact | No. |
|---|---|---|
| Stop_gained | HIGH | 746 |
| Splice_acceptor_variant | HIGH | 77 |
| Splice_donor_variant | HIGH | 64 |
| Stop_lost | HIGH | 26 |
| Start_lost | HIGH | 16 |
| Missense_variant | MODERATE | 15,572 |
| Synonymous_variant | LOW | 9,787 |
| 5_Prime_UTR_premature_start_codon_gain_variant | LOW | 358 |
| Splice_region_variant | LOW | 1,941 |
| Stop_retained_variant | LOW | 7 |
| Initiator_codon_variant | LOW | 15 |
| Intron_variant | MODIFIER | 217,002 |
| Intergenic_region | MODIFIER | 355,721 |
| 5_Prime_UTR_variant | MODIFIER | 2,290 |
| 3_Prime_UTR_variant | MODIFIER | 16,301 |
| Non_coding_transcript_exon_variant | MODIFIER | 1,749 |
| Total | 621,672 |