Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057516618 | 1.000 | 0.080 | 11 | 71435808 | frameshift variant | A/- | del | 1 | |||
| rs1057516783 | 1.000 | 0.080 | 11 | 71438906 | frameshift variant | A/- | del | 1 | |||
| rs1555145859 | 1.000 | 0.080 | 11 | 71437823 | frameshift variant | A/- | delins | 1 | |||
| rs1057517070 | 1.000 | 0.080 | 11 | 71437810 | splice donor variant | A/C | snv | 1 | |||
| rs779896782 | 0.882 | 0.160 | 11 | 71439055 | missense variant | A/C;G | snv | 8.0E-06 | 5 | ||
| rs949177 | 1.000 | 0.080 | 11 | 71441415 | missense variant | A/C;G;T | snv | 8.0E-06; 0.87 | 1 | ||
| rs1331331095 | 0.925 | 0.080 | 11 | 71435394 | missense variant | A/C;T | snv | 3 | |||
| rs1046560765 | 1.000 | 0.080 | 11 | 71435581 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 1 | |
| rs104886041 | 1.000 | 0.080 | 11 | 71444018 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs1173707321 | 1.000 | 0.080 | 11 | 71435833 | missense variant | A/G | snv | 4.3E-06 | 1 | ||
| rs121912195 | 1.000 | 0.080 | 11 | 71442349 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
| rs201270451 | 1.000 | 0.080 | 11 | 71435419 | missense variant | A/G | snv | 1 | |||
| rs373306653 | 1.000 | 0.080 | 11 | 71435665 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs753960624 | 1.000 | 0.080 | 11 | 71441383 | missense variant | A/G | snv | 4.4E-05 | 1.4E-05 | 1 | |
| rs775034584 | 1.000 | 0.080 | 11 | 71435377 | stop lost | A/G;T | snv | 1.6E-05 | 1 | ||
| rs1057516920 | 1.000 | 0.080 | 11 | 71438877 | splice donor variant | A/T | snv | 7.0E-06 | 1 | ||
| rs759720450 | 1.000 | 0.080 | 11 | 71435746 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 1 | |
| rs104894212 | 1.000 | 0.080 | 11 | 71438966 | missense variant | C/A | snv | 1 | |||
| rs1057516973 | 1.000 | 0.080 | 11 | 71437811 | splice donor variant | C/A | snv | 1 | |||
| rs80338859 | 1.000 | 0.080 | 11 | 71435827 | missense variant | C/A | snv | 1.7E-05 | 4.9E-05 | 1 | |
| rs138659167 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 20 | ||
| rs1471145742 | 1.000 | 0.080 | 11 | 71441226 | splice donor variant | C/A;G | snv | 7.0E-06 | 1 | ||
| rs781687341 | 1.000 | 0.080 | 11 | 71435475 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 1 | ||
| rs1057516493 | 1.000 | 0.080 | 11 | 71435604 | stop gained | C/A;T | snv | 1 | |||
| rs121909768 | 1.000 | 0.080 | 11 | 71435748 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 1 |