Annotation impact | Annotation effect | n SNP | n effects | \(-{{\text{log}}}_{10}\left({\text{Pvalue}}\right)\) | n SNP > 15 |
---|---|---|---|---|---|
High | Stop gained | 5 | 26 | 4.8 | 0 |
Splice donor variant | 2 | 4 | 1.4 | 0 | |
Splice acceptor variant | 1 | 13 | 1.1 | 0 | |
Stop lost | 1 | 8 | 0.3 | 0 | |
Moderate | Missense variant | 356 | 2042 | 14.8 | 0 |
Low | Synonymous variant | 324 | 1849 | 17.5 | 3 |
Splice region variant | 80 | 342 | 8.8 | 0 | |
Initiator codon variant | 1 | 1 | 4.0 | 0 | |
5′ UTR premature start codon gain variant | 47 | 89 | 9.3 | 0 | |
Modifier | Intergenic region | 17,333 | 17,333 | 20.2 | 314 |
Upstream gene variant | 4017 | 7537 | 19.9 | 74 | |
Downstream gene variant | 3255 | 6202 | 19.0 | 27 | |
Intron variant | 16,791 | 130,561 | 19.0 | 65 | |
Non coding transcript exon variant | 214 | 214 | 13.8 | 0 | |
5′ UTR variant | 250 | 483 | 10.3 | 0 | |
3′ UTR variant | 422 | 1209 | 7.8 | 0 |