| 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 | ||
| rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
| rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
| rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
| rs4845604 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 10 | |||
| rs760805 | 0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 | 9 | ||
| rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 | ||
| rs138726443 | 0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 | 7 | ||
| rs301806 | 0.851 | 0.120 | 1 | 8422018 | intron variant | C/T | snv | 0.62 | 6 | ||
| rs11584340 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 5 | |
| rs150597413 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 5 | ||
| rs2427837 | 0.851 | 0.160 | 1 | 159288755 | upstream gene variant | G/A | snv | 0.20 | 5 | ||
| rs3126085 | 0.851 | 0.280 | 1 | 152328341 | intron variant | G/A | snv | 0.29 | 5 | ||
| rs941934 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 5 | |||
| rs121909626 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 4 | ||
| rs146466242 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 4 | ||
| rs1870940 | 0.851 | 0.080 | 1 | 155011887 | intron variant | G/A | snv | 0.22 | 4 | ||
| rs2070901 | 0.882 | 0.120 | 1 | 161215268 | non coding transcript exon variant | G/T | snv | 0.32 | 4 | ||
| rs6684514 | 0.925 | 0.120 | 1 | 156285665 | missense variant | G/A | snv | 0.27 | 0.24 | 4 | |
| rs114269697 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 3 | ||
| rs115288876 | 0.925 | 0.120 | 1 | 152027641 | intron variant | G/A | snv | 2.5E-02 | 3 | ||
| rs115746363 | 0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 | 3 | ||
| rs1214598 | 0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv | 3 | |||
| rs149484917 | 0.882 | 0.120 | 1 | 152304939 | stop gained | G/C;T | snv | 4.7E-04; 4.0E-06 | 3 |