| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
| rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
| rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
| rs1200746244 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 11 | |
| rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
| rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
| rs2295633 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 7 | |||
| rs11466112 | 1.000 | 0.080 | 1 | 115286135 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 3 | |
| rs2206593 | 0.925 | 0.080 | 1 | 186673297 | 3 prime UTR variant | A/G | snv | 0.95 | 3 | ||
| rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
| rs3845446 | 1 | 181797301 | intron variant | T/C | snv | 6.3E-02 | 3 | ||||
| rs6334 | 1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 | 3 | ||
| rs3766246 | 1 | 46399999 | intron variant | A/C;G | snv | 2 | |||||
| rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 | ||
| rs748653984 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs778056858 | 1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs943552 | 1 | 156885826 | downstream gene variant | C/T | snv | 9.7E-02 | 2 | ||||
| rs1571138 | 1 | 46429969 | upstream gene variant | A/G | snv | 0.73 | 1 | ||||
| rs2383515 | 1 | 186683820 | upstream gene variant | G/A;T | snv | 1 | |||||
| rs3872309 | 1 | 16564838 | missense variant | C/T | snv | 1 | |||||
| rs4660928 | 1 | 46420268 | TF binding site variant | A/C | snv | 0.63 | 1 | ||||
| rs769854785 | 1 | 156871656 | synonymous variant | C/T | snv | 1 | |||||
| rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
| rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 |