Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
rs587776576 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 7 | |||
rs200482683 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 6 | |
rs530318579 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
rs869025495 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 6 | |||
rs74315343 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs1462028977 | 0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 | 4 | |
rs748812981 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 4 | |
rs114896482 | 0.882 | 0.080 | 19 | 35842487 | missense variant | G/A | snv | 2.3E-03 | 1.5E-03 | 3 | |
rs1272948499 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 3 | ||
rs749740335 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 3 | |
rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs1057516395 | 0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del | 2 | |||
rs1057516414 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
rs1057516747 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 2 | ||
rs1057516880 | 0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins | 2 | |||
rs1060499703 | 0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv | 2 | |||
rs1167223941 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 2 | |||
rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 | |||
rs12568913 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
rs1291398331 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 2 | ||
rs1320543506 | 0.925 | 0.080 | 1 | 179575760 | frameshift variant | -/C | delins | 2 |