| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs56144125 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 6 | ||
| rs1564855725 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 5 | |||
| rs553522118 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 5 | |||
| rs878855331 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 5 | |||
| rs796053439 | 0.925 | 0.240 | 11 | 6616714 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 4 | ||
| rs750428882 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
| rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 1 | |
| rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 1 | ||
| rs1364709483 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 36 | ||
| rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
| rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
| rs398122965 | 0.807 | 0.280 | 16 | 2496872 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 13 | |
| rs398122967 | 0.827 | 0.280 | 16 | 2498262 | frameshift variant | T/- | del | 7.4E-05 | 4.9E-05 | 12 | |
| rs201257588 | 0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 | 9 | ||
| rs398122966 | 0.882 | 0.280 | 16 | 2496266 | missense variant | C/T | snv | 8.0E-06 | 9 | ||
| rs398122968 | 0.882 | 0.280 | 16 | 2499425 | splice region variant | G/A | snv | 9 | |||
| rs747821285 | 0.882 | 0.280 | 16 | 2496476 | missense variant | G/A | snv | 4.1E-06 | 9 | ||
| rs760474458 | 0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 | 9 | ||
| rs797044548 | 0.882 | 0.280 | 16 | 2498253 | missense variant | G/T | snv | 9 | |||
| rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
| rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
| rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
| rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
| rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
| rs398122403 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 1 |