| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs751040647 | 1.000 | 0.120 | 21 | 45999190 | missense variant | A/C | snv | 1.1E-04 | 1.5E-04 | 1 | |
| rs759918870 | 1.000 | 0.120 | 21 | 46002696 | splice donor variant | ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- | delins | 7.0E-06 | 1 | ||
| rs762867111 | 1.000 | 0.120 | 21 | 45987076 | splice region variant | A/G | snv | 1.2E-05 | 5.6E-05 | 1 | |
| rs764129993 | 1.000 | 0.120 | 21 | 46001375 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 1 | ||
| rs797044456 | 1.000 | 0.120 | 21 | 45990828 | splice donor variant | T/C | snv | 1 | |||
| rs886042354 | 1.000 | 0.120 | 21 | 45990257 | splice acceptor variant | G/A;C | snv | 1 | |||
| rs886043321 | 1.000 | 0.120 | 21 | 45990791 | missense variant | G/C;T | snv | 1 | |||
| rs886043351 | 1.000 | 0.120 | 21 | 45987638 | missense variant | G/A;T | snv | 1 | |||
| rs747900252 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 6 | |
| rs267606748 | 0.882 | 0.160 | 21 | 46115917 | missense variant | G/A | snv | 3 | |||
| rs267606747 | 0.925 | 0.160 | 21 | 46126144 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
| rs387906609 | 0.925 | 0.120 | 21 | 46117916 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
| rs751987553 | 0.925 | 0.120 | 21 | 46125301 | stop gained | C/A;T | snv | 2.8E-05 | 2 | ||
| rs761310536 | 1.000 | 0.120 | 21 | 46121115 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 2 | |
| rs117725825 | 1.000 | 0.120 | 21 | 46132287 | missense variant | C/G;T | snv | 2.5E-03 | 1 | ||
| rs121912940 | 1.000 | 0.120 | 21 | 46115881 | missense variant | G/A | snv | 1 | |||
| rs1375040481 | 1.000 | 0.120 | 21 | 46112504 | frameshift variant | ACGAC/- | del | 4.1E-06 | 1 | ||
| rs138948335 | 1.000 | 0.120 | 21 | 46125817 | stop gained | G/A;T | snv | 1.0E-04 | 1.4E-05 | 1 | |
| rs1555873353 | 1.000 | 0.120 | 21 | 46117387 | splice acceptor variant | CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/- | del | 1 | |||
| rs1555873356 | 1.000 | 0.120 | 21 | 46117398 | splice acceptor variant | A/C;G | snv | 1 | |||
| rs1555873507 | 1.000 | 0.120 | 21 | 46117873 | splice region variant | G/- | delins | 1 | |||
| rs1555873508 | 1.000 | 0.120 | 21 | 46117876 | frameshift variant | C/- | delins | 1 | |||
| rs1555877252 | 1.000 | 0.120 | 21 | 46132064 | stop gained | C/T | snv | 1 | |||
| rs1568928804 | 1.000 | 0.120 | 21 | 46115909 | missense variant | G/A | snv | 1 | |||
| rs1568929639 | 1.000 | 0.120 | 21 | 46116767 | splice acceptor variant | CAG/AA | delins | 1 |