| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397516833 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 5 | |||
| rs397516836 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 5 | |||
| rs587780088 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 5 | ||
| rs587780749 | 0.925 | 0.160 | 1 | 45332443 | missense variant | C/A;T | snv | 5.6E-05; 8.0E-06 | 5 | ||
| rs587781270 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 5 | |||
| rs587781628 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 5 | |
| rs587782243 | 0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 5 | |
| rs74315367 | 0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 | 5 | ||
| rs74315368 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 5 | |
| rs74315370 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 5 | ||
| rs765123255 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 5 | |
| rs786201063 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 5 | |||
| rs786201161 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 5 | |||
| rs786202732 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 5 | |||
| rs786203251 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 5 | |||
| rs1060503764 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 4 | |||
| rs1131691055 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 4 | |||
| rs121908380 | 0.882 | 0.160 | 1 | 45333449 | stop gained | G/A;T | snv | 1.4E-03; 1.2E-04 | 4 | ||
| rs121913123 | 0.882 | 0.360 | 1 | 241508643 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 4 | ||
| rs200245469 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
| rs397516835 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 4 | |||
| rs398123690 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 4 | |||
| rs587778536 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 4 | |
| rs587778661 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
| rs587780078 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 4 |