Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1762111 | 0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs28938473 | 0.882 | 0.040 | 1 | 94007731 | missense variant | G/A | snv | 3.0E-03 | 3.6E-03 | 3 | |
| rs41292677 | 0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 | 3 | |
| rs61749423 | 0.925 | 0.040 | 1 | 94060656 | stop gained | G/A;T | snv | 8.0E-06; 4.4E-05 | 3 | ||
| rs61750138 | 1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 | 3 | |||
| rs61750645 | 0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
| rs61751263 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 3 | |
| rs61751402 | 0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 | 3 | |
| rs61751404 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 3 | ||
| rs61753033 | 0.882 | 0.080 | 1 | 94008767 | missense variant | A/G | snv | 2.0E-05 | 3 | ||
| rs778234759 | 0.925 | 0.040 | 1 | 94018445 | intron variant | C/T | snv | 1.3E-04 | 3 | ||
| rs113106943 | 0.925 | 0.040 | 1 | 94021848 | missense variant | C/T | snv | 2.4E-03 | 2.3E-03 | 2 | |
| rs121909206 | 0.925 | 0.080 | 1 | 94015766 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs150774447 | 1.000 | 1 | 94111579 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 2 | |||
| rs1553186896 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 2 | ||||
| rs1800552 | 0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 | 2 | |
| rs200692438 | 0.925 | 0.080 | 1 | 94060733 | missense variant | A/C | snv | 3.8E-04 | 3.2E-04 | 2 | |
| rs61748552 | 1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 | 2 | ||
| rs61748556 | 0.925 | 0.040 | 1 | 94063263 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 2 | |
| rs61749412 | 0.925 | 0.080 | 1 | 94062695 | missense variant | C/A;G;T | snv | 2.8E-05 | 2 | ||
| rs61749451 | 0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 | 2 | ||
| rs61750126 | 0.925 | 0.080 | 1 | 94040048 | missense variant | A/C | snv | 6.7E-03 | 2.8E-02 | 2 | |
| rs61750135 | 1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 2 | ||
| rs61750152 | 0.925 | 0.080 | 1 | 94025011 | missense variant | G/A | snv | 5.2E-05 | 9.1E-05 | 2 | |
| rs61751377 | 1.000 | 1 | 94019581 | splice donor variant | C/T | snv | 2.2E-05 | 7.0E-06 | 2 |