Table 2. Predicted functional effects of the TNC and COL27A1 variants prioritised for investigation after whole exome sequencing.
| SNP ID | Coding effect | Functional effect predicted by | ||||
|---|---|---|---|---|---|---|
| SIFT | PolyPhen-2 | CADD | DANN | Fathmm_MKL | ||
| TNC variants | ||||||
| rs1061494 | NON-SYN | T | B | 0.62 | 0.54 | N |
| rs1138545 | NON-SYN | T | B | 17.19 | 0.85 | N |
| rs2104772 | NON-SYN | T | B | 17.21 | 0.70 | D |
| rs1061495 | SYN | - | - | - | - | - |
| COL27A1 variants | ||||||
| rs2567706 | NON-SYN | T | B | 2.00 | 0.81 | N |
| rs2241671 | NON-SYN | T | B | 0.00 | 0.36 | N |
| rs2567705 | NON-SYN | T | B | 16.51 | 0.91 | N |
SNP ID: dbSNP accession number. Coding effect: NON-SYN (non-synonymous); SYN (synonymous). T: Tolerated; B: Benign; D: Deleterious; N: Neutral. Bold typeset indicates an estimate predicting for functional significance.