| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
| rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 25 | |
| rs28936415 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 22 | |
| rs1569547876 | 1.000 | X | 77841252 | stop gained | G/A | snv | 4 | ||||
| rs28939378 | 0.925 | 0.160 | 16 | 5078789 | missense variant | C/T | snv | 3.0E-04 | 3.5E-04 | 3 | |
| rs373260156 | 1.000 | X | 77830825 | missense variant | T/C;G | snv | 1.2E-05 | 3 | |||
| rs765191836 | 1.000 | 4 | 55367628 | stop gained | G/A;T | snv | 4.0E-06 | 3 | |||
| rs151173406 | 1.000 | 0.080 | 16 | 5078842 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 2 | |
| rs398124348 | 1.000 | 0.080 | 16 | 5082565 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
| rs398124349 | 1.000 | 0.080 | 16 | 5082648 | missense variant | C/T | snv | 2 | |||
| rs746019074 | 1.000 | 0.080 | 16 | 5083744 | frameshift variant | -/TG | ins | 1.3E-05; 8.5E-06 | 2.1E-05 | 2 | |
| rs794726944 | 1.000 | 0.080 | 16 | 5071998 | missense variant | A/G | snv | 4.6E-06 | 2 | ||
| rs794727301 | 1.000 | 0.080 | 16 | 5073004 | missense variant | T/G | snv | 7.0E-06 | 2 | ||
| rs374928784 | 16 | 5082674 | splice donor variant | G/A | snv | 1.6E-05 | 1 | ||||
| rs752922461 | 16 | 5071864 | stop gained | C/A;G;T | snv | 8.6E-06; 4.3E-06; 2.6E-05 | 1 | ||||
| rs794727073 | 16 | 5083680 | splice acceptor variant | A/G | snv | 2.1E-05 | 1 | ||||
| rs370434427 | 1.000 | 0.080 | 3 | 184245562 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 1 | ||
| rs35383149 | 1.000 | 0.080 | 1 | 63406361 | missense variant | T/C | snv | 3.0E-02 | 2.9E-02 | 1 | |
| rs121908023 | 1.000 | 0.080 | 11 | 111853415 | missense variant | T/C | snv | 6.0E-05 | 3.5E-05 | 1 | |
| rs387907202 | 1.000 | 16 | 70512280 | stop gained | C/A;T | snv | 1 | ||||
| rs387907203 | 1.000 | 16 | 70481062 | missense variant | A/C;G | snv | 4.0E-06 | 1 | |||
| rs587777116 | 1.000 | 0.080 | 20 | 50942070 | missense variant | C/A | snv | 1.6E-05 | 1 | ||
| rs16835020 | 1.000 | 0.080 | 16 | 5084798 | missense variant | C/T | snv | 4.3E-06; 8.6E-06 | 7.0E-06 | 1 | |
| rs151319324 | 1.000 | 0.080 | 16 | 8847797 | missense variant | G/A;C | snv | 5.7E-04; 8.0E-06; 4.0E-06 | 1 | ||
| rs587777323 | 0.925 | 0.080 | 2 | 74464705 | stop gained | G/A | snv | 1.6E-05 | 7.0E-05 | 1 |