| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs149344567 | 0.925 | 0.120 | 1 | 111776247 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 2 | |
| rs1178561476 | 1.000 | 0.040 | 1 | 111777204 | missense variant | A/G | snv | 1 | |||
| rs786205867 | 0.882 | 0.080 | 1 | 111787039 | missense variant | C/T | snv | 3 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1064795287 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 2 | |||
| rs199473014 | 0.925 | 0.120 | 7 | 150947684 | missense variant | G/T | snv | 2.1E-05 | 2 | ||
| rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
| rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
| rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
| rs199472856 | 1.000 | 0.040 | 7 | 150974717 | stop gained | T/A;C | snv | 1 | |||
| rs1318358361 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 13 | ||
| rs17375748 | 1.000 | 0.040 | 1 | 160040361 | 3 prime UTR variant | C/G;T | snv | 1 | |||
| rs1130183 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 6 | |
| rs12133079 | 1.000 | 0.040 | 1 | 160046674 | intron variant | C/A | snv | 0.13 | 2 | ||
| rs1186688 | 1.000 | 0.040 | 1 | 160055093 | intron variant | T/C | snv | 0.41 | 1 | ||
| rs10494366 | 0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 | 7 | ||
| rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
| rs2266782 | 0.851 | 0.200 | 1 | 171107825 | missense variant | G/A | snv | 0.37 | 0.41 | 7 | |
| rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
| rs72466451 | 0.925 | 0.160 | 2 | 197498763 | missense variant | T/C | snv | 2 | |||
| rs147316959 | 1.000 | 0.040 | 12 | 21765962 | missense variant | C/T | snv | 9.9E-05 | 3.1E-04 | 1 | |
| rs1880243 | 1.000 | 0.040 | 7 | 22720036 | intron variant | C/A | snv | 0.18 | 1 | ||
| rs794728708 | 0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv | 8 | |||
| rs199472728 | 0.925 | 0.120 | 11 | 2572885 | missense variant | A/G | snv | 1.8E-04 | 1.3E-04 | 2 | |
| rs9951307 | 0.882 | 0.120 | 18 | 26850565 | intron variant | G/A | snv | 0.65 | 5 |