Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 4 | ||
rs72653762 | 0.851 | 0.240 | 16 | 16202006 | missense variant | T/C | snv | 5.6E-03 | 4.7E-03 | 13 | |
rs1569540688 | 0.925 | 0.240 | X | 153725586 | missense variant | T/C | snv | 4 | |||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs587776625 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 12 | |||
rs397514452 | 1.000 | 10 | 74670258 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 5 | |||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 11 | |||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 8 | |||
rs121912708 | 1.000 | 0.040 | 5 | 126583997 | stop gained | G/A;C | snv | 6.0E-05; 4.0E-06 | 3 | ||
rs140845195 | 1.000 | 0.040 | 5 | 126545020 | splice acceptor variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 3 | ||
rs121912707 | 0.925 | 0.040 | 5 | 126552059 | missense variant | C/G | snv | 3.6E-04 | 2.4E-04 | 2 | |
rs750693623 | 1.000 | 0.040 | 5 | 126595165 | frameshift variant | C/- | del | 5.6E-04 | 2 | ||
rs1444879414 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 1 | ||||
rs778003597 | 5 | 126559300 | frameshift variant | -/G | delins | 8.0E-06 | 7.0E-06 | 1 | |||
rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1555452127 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 34 | |||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 16 | |||
rs1560162116 | 0.882 | 0.080 | 3 | 184242930 | missense variant | T/C | snv | 5 | |||
rs1560164682 | 0.882 | 0.080 | 3 | 184245709 | splice region variant | T/C | snv | 5 | |||
rs786204473 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 2 | |||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs886041125 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 12 | ||
rs1555525115 | 0.851 | 0.360 | 16 | 89279567 | frameshift variant | GGCTTCGG/- | delins | 5 | |||
rs1567230528 | 1.000 | 15 | 50949824 | splice acceptor variant | A/C | snv | 2 |