Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs112508527 | 1.000 | 0.080 | 1 | 23810769 | stop gained | A/C;G;T | snv | 7.6E-05; 4.0E-06 | 1 | ||
| rs1184002840 | 1.000 | 0.080 | 1 | 23816737 | frameshift variant | G/- | del | 4.0E-06 | 1 | ||
| rs121964997 | 1.000 | 0.080 | 1 | 23820532 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 1 | |
| rs121964998 | 1.000 | 0.080 | 1 | 23804441 | missense variant | C/T | snv | 1 | |||
| rs1425615804 | 1.000 | 0.080 | 1 | 23804413 | stop gained | A/T | snv | 7.0E-06 | 1 | ||
| rs1553131955 | 1.000 | 0.080 | 1 | 23808325 | splice acceptor variant | T/C | snv | 1 | |||
| rs1553132209 | 1.000 | 0.080 | 1 | 23810798 | missense variant | A/T | snv | 1 | |||
| rs1553132520 | 1.000 | 0.080 | 1 | 23814274 | frameshift variant | T/- | delins | 1 | |||
| rs1553133042 | 1.000 | 0.080 | 1 | 23820532 | frameshift variant | -/G | delins | 1 | |||
| rs200189529 | 1.000 | 0.080 | 1 | 23810796 | stop gained | G/A;C | snv | 1.2E-05 | 1 | ||
| rs727503963 | 1.000 | 0.080 | 1 | 23808187 | missense variant | T/C | snv | 4.0E-06 | 4.2E-05 | 1 | |
| rs752137615 | 1.000 | 0.080 | 1 | 23817521 | frameshift variant | AG/- | delins | 1.4E-05 | 1 | ||
| rs763494292 | 0.925 | 0.080 | 1 | 23820545 | stop gained | C/A | snv | 4.8E-05 | 6.3E-05 | 1 | |
| rs764264834 | 1.000 | 0.080 | 1 | 23810791 | frameshift variant | GA/- | delins | 1.2E-05 | 7.0E-06 | 1 | |
| rs765198174 | 1.000 | 0.080 | 1 | 23804472 | stop gained | G/A;T | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs770225915 | 1.000 | 0.080 | 1 | 23820533 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs890995574 | 1.000 | 0.080 | 1 | 23816737 | stop gained | G/A | snv | 1 | |||
| rs786205431 | 1.000 | 0.080 | 1 | 23802526 | frameshift variant | AA/- | delins | 4.0E-06 | 1 | ||
| rs1212444447 | 1.000 | 0.080 | 1 | 23825385 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
| rs1302190999 | 1.000 | 0.080 | 1 | 23825413 | start lost | C/A | snv | 1 | |||
| rs1324641233 | 1.000 | 0.080 | 1 | 23825355 | splice donor variant | C/A;G | snv | 6.3E-06 | 1 | ||
| rs1409716731 | 1.000 | 0.080 | 1 | 23825389 | frameshift variant | C/- | del | 2.1E-05 | 1 |