Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
| rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 8 | |
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
| rs61750641 | 0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 | 7 | |
| rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
| rs61750130 | 0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 | 6 | |
| rs61751383 | 0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 6 | |
| rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 6 | |
| rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
| rs398123339 | 0.851 | 0.120 | 1 | 94113068 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
| rs61748558 | 0.827 | 0.080 | 1 | 94063224 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 5 | |
| rs61750654 | 0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 5 | |
| rs61751392 | 0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 | 5 | |
| rs61751408 | 0.851 | 0.080 | 1 | 94005509 | missense variant | G/A | snv | 2.0E-04 | 1.7E-04 | 5 | |
| rs1057518767 | 0.851 | 0.120 | 1 | 94098874 | missense variant | A/T | snv | 4 | |||
| rs1801269 | 0.851 | 0.080 | 1 | 94041345 | missense variant | C/A;T | snv | 3.1E-04; 4.0E-06 | 4 | ||
| rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 4 | |
| rs55732384 | 0.851 | 0.080 | 1 | 94111561 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 4 | |
| rs61749409 | 0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 4 | |
| rs61749420 | 0.851 | 0.080 | 1 | 94060740 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 4 | |
| rs61750146 | 0.851 | 0.080 | 1 | 94029522 | missense variant | A/G | snv | 8.2E-06 | 7.0E-06 | 4 | |
| rs61750200 | 0.790 | 0.080 | 1 | 94098928 | missense variant | G/A;T | snv | 1.1E-04; 8.0E-06 | 4 | ||
| rs61751389 | 0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 | 4 | |
| rs61751406 | 0.925 | 0.120 | 1 | 94014622 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 4 | |
| rs61751407 | 0.882 | 0.080 | 1 | 94010795 | splice region variant | C/A;T | snv | 3.1E-04 | 3.5E-04 | 4 |