| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113993993 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 9 | ||
| rs120074160 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 6 | ||
| rs373730800 | 0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 | 4 | |||
| rs113993992 | 0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 | 3 | |
| rs113993995 | 0.925 | 7 | 66993299 | missense variant | C/G | snv | 7.0E-06 | 1 | |||
| rs201070132 | 1.000 | 7 | 66993288 | missense variant | C/A;T | snv | 1.2E-05; 9.1E-05 | 1 | |||
| rs1555354198 | 1.000 | 14 | 35007369 | inframe deletion | ACA/- | delins | 1 | ||||
| rs1555354200 | 1.000 | 14 | 35007370 | missense variant | A/G | snv | 1 | ||||
| rs1555354750 | 1.000 | 14 | 35013386 | missense variant | G/A | snv | 1 |