| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555046428 | 1.000 | 11 | 118503078 | frameshift variant | -/CAGAT | delins | 2 | ||||
| rs1555052879 | 1.000 | 11 | 118519746 | frameshift variant | C/- | delins | 2 | ||||
| rs1556235119 | 1.000 | X | 119574712 | start lost | A/G | snv | 3 | ||||
| rs1556200443 | 1.000 | X | 120538659 | splice donor variant | C/- | delins | 2 | ||||
| rs1553471273 | 0.925 | 0.160 | 2 | 120951309 | frameshift variant | G/- | delins | 3 | |||
| rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
| rs782304760 | 0.925 | 0.080 | 12 | 121442391 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 4 | |
| rs1554200990 | 1.000 | 6 | 121446960 | missense variant | G/C | snv | 4 | ||||
| rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 | ||
| rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
| rs746547282 | 3 | 123330888 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
| rs1553732126 | 3 | 123347875 | frameshift variant | -/G | delins | 2 | |||||
| rs759125480 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 16 | ||
| rs1555055028 | 0.882 | 0.160 | 11 | 124923996 | missense variant | G/A | snv | 5 | |||
| rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
| rs368820286 | 1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 | 3 | ||
| rs1554777375 | 9 | 127665304 | frameshift variant | -/A | delins | 2 | |||||
| rs796053361 | 0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv | 4 | |||
| rs1554778941 | 9 | 127682485 | frameshift variant | G/- | delins | 2 | |||||
| rs1554767313 | 9 | 128203597 | missense variant | G/A | snv | 1 | |||||
| rs1554767317 | 1.000 | 9 | 128203604 | missense variant | G/A | snv | 2 | ||||
| rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
| rs1554774587 | 1.000 | 9 | 128222543 | missense variant | G/A | snv | 2 | ||||
| rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
| rs1554776342 | 1.000 | 9 | 128691222 | frameshift variant | ACAG/- | delins | 2 |