Table 3.
Non-synonymous and loss/gain of stop single nucleotide polymorphisms within the interferon-γ gene
| SNP ID | Location (Chr:bp) | Alleles | Type | AA change | AA position | SIFT | PolyPhen |
|---|---|---|---|---|---|---|---|
| COSM942843 | 12:68551973 | C/A | Stop gain | E/* | 61 | N/A | N/A |
| COSM549550 | 12:68549134 | T/A | Stop lost | */L | 167 | N/A | N/A |
| rs372093951 | 12:68549141 | A/G | Missense | S/P | 165 | tolerated | benign |
| rs369578383 | 12:68549144 | C/A | Missense | A/S | 164 | deleterious | benign |
| rs201359065 | 12:68549155 | C/T | Missense | R/Q | 160 | tolerated | benign |
| rs374634889 | 12:68549161 | A/T | Missense | L/Q | 158 | tolerated | possibly damaging |
| rs377736305 | 12:68549179 | C/T | Missense | R/Q | 152 | deleterious | possibly damaging |
| rs150875052 | 12:68551842 | C/T | Missense | V/I | 73 | tolerated | benign |
| rs76012457 | 12:68551993 | C/T | Missense | G/D | 54 | tolerated | benign |
| rs371849964 | 12:68553385 | G/A | Missense | T/I | 4 | deleterious | probably damaging |
| COSM942837 | 12:68549155 | C/T | Missense | R/Q | 160 | tolerated | benign |
| COSM356728 | 12:68549164 | A/T | Missense | M/K | 157 | tolerated | benign |
| COSM549549 | 12:68549203 | G/A | Missense | S/L | 144 | tolerated | benign |
| COSM1476858 | 12:68549246 | G/A | Missense | R/C | 130 | deleterious | probably damaging |
| COSM549548 | 12:68549249 | G/T | Missense | Q/K | 129 | deleterious | probably damaging |
| COSM1363841 | 12:68551694 | G/A | Missense | S/L | 122 | deleterious | probably damaging |
| COSM942839 | 12:68551724 | C/T | Missense | R/Q | 112 | tolerated | benign |
| COSM1210288 | 12:68551729 | C/A | Missense | K/N | 110 | tolerated | benign |
| COSM1582160 | 12:68551730 | T/A | Missense | K/M | 110 | tolerated | benign |
| COSM1476859 | 12:68551735 | G/C | Missense | N/K | 108 | tolerated | benign |
| COSM1210289 | 12:68551752 | T/C | Missense | K/E | 103 | tolerated | possibly damaging |
| COSM942840 | 12:68551754 | A/G | Missense | V/A | 102 | tolerated | benign |
| COSM942841 | 12:68551796 | C/T | Missense | S/N | 88 | tolerated | benign |
| COSM942842 | 12:68551865 | C/A | Missense | R/I | 65 | tolerated | benign |
| COSM694678 | 12:68551865 | C/G | Missense | R/T | 65 | tolerated | benign |
| COSM942844 | 12:68551983 | C/A | Missense | K/N | 57 | deleterious | benign |
| COSM942845 | 12:68552003 | G/T | Missense | L/I | 51 | tolerated | probably damaging |
| COSM942846 | 12:68553283 | A/C | Missense | F/C | 38 | deleterious | possibly damaging |
| COSM194534 | 12:68553291 | C/A | Missense | K/N | 35 | deleterious | probably damaging |
| COSM1705908 | 12:68553320 | G/A | Missense | P/S | 26 | tolerated | benign |
| COSM942847 | 12:68553338 | C/T | Missense | G/S | 20 | tolerated | benign |
| COSM240197 | 12:68553353 | C/T | Missense | V/I | 15 | tolerated | benign |
| COSM1363842 | 12:68553388 | T/C | Missense | Y/C | 3 | tolerated | possibly damaging |
AA, amino acid.
Data from Ensembl14.