Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555932766 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 9 | |||
rs1213930919 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 9 | |||
rs746365549 | 2 | 178782573 | missense variant | C/A;T | snv | 8.0E-06 | 2 | ||||
rs863225119 | 0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv | 5 | |||
rs1800692 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 5 | |
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs1565307564 | 0.807 | 0.120 | 11 | 61783599 | missense variant | A/G | snv | 7 | |||
rs137852952 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 2 | |
rs375349466 | 4 | 166003545 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs1801198 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 26 | ||
rs1555226315 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 4 | |||
rs147405081 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 1 | |||
rs764328696 | 1.000 | 7 | 35248696 | missense variant | C/G;T | snv | 3 | ||||
rs111862418 | 7 | 35204548 | missense variant | A/C;T | snv | 1 | |||||
rs483352999 | 7 | 35202590 | missense variant | A/C | snv | 1 | |||||
rs1364709483 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 36 | ||
rs141441277 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 5 | |
rs870142 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 7 | |||
rs16835979 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 6 | ||
rs6824295 | 0.851 | 0.120 | 4 | 4612553 | intron variant | C/T | snv | 0.20 | 6 | ||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs1393297693 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs267607079 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 13 |