| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs730882220 | 1.000 | 0.080 | 7 | 256001 | missense variant | C/T | snv | 7.1E-06 | 3 | ||
| rs869312681 | 1.000 | 16 | 9763169 | missense variant | T/C | snv | 3 | ||||
| rs886041300 | 1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv | 3 | |||
| rs730882218 | 0.925 | 0.120 | 14 | 49621979 | missense variant | G/C | snv | 3 | |||
| rs727504031 | 0.925 | 0.200 | X | 43949981 | missense variant | G/A | snv | 3 | |||
| rs1554985320 | 0.925 | 0.240 | 11 | 31801619 | stop gained | C/T | snv | 3 | |||
| rs374993554 | 0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 | 3 | |||
| rs904200599 | 1.000 | 20 | 13534116 | missense variant | G/A | snv | 3 | ||||
| rs886040958 | 1.000 | 0.280 | 6 | 157207395 | frameshift variant | CC/- | delins | 4 | |||
| rs730882201 | 1.000 | 11 | 30336665 | missense variant | G/A | snv | 4 | ||||
| rs730882202 | 0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins | 4 | |||
| rs367557471 | 1.000 | 0.120 | 8 | 60822055 | stop gained | C/A;T | snv | 5.2E-05 | 7.0E-05 | 4 | |
| rs752738546 | 1.000 | X | 41343802 | stop gained | G/A;T | snv | 5.6E-06 | 4 | |||
| rs1057518849 | 0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 | 4 | ||
| rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
| rs1553763618 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 4 | |||
| rs782661984 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 4 | |
| rs769235753 | 0.925 | 0.120 | 6 | 73644582 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
| rs1557045296 | 1.000 | X | 153693971 | missense variant | C/T | snv | 4 | ||||
| rs730882215 | 0.882 | 0.040 | 16 | 78424869 | splice acceptor variant | G/A | snv | 4.0E-06 | 4 | ||
| rs869312696 | 0.882 | 0.160 | 18 | 33739086 | stop gained | C/A | snv | 5 | |||
| rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
| rs773722162 | 0.882 | 0.120 | 1 | 109272915 | inframe insertion | -/AGAAGAGGAGGA | delins | 5.2E-05 | 4.2E-05 | 5 | |
| rs869312686 | 0.882 | 0.120 | X | 153952053 | missense variant | G/C;T | snv | 5 | |||
| rs786205567 | 0.925 | 0.120 | 3 | 129500070 | splice donor variant | T/C | snv | 5 |