Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516747 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 2 | ||
rs1320543506 | 0.925 | 0.080 | 1 | 179575760 | frameshift variant | -/C | delins | 2 | |||
rs1553316611 | 0.925 | 0.080 | 1 | 179575698 | frameshift variant | -/C | delins | 2 | |||
rs1057516900 | 0.925 | 0.080 | 1 | 179551262 | frameshift variant | -/G | delins | 4.0E-06 | 2 | ||
rs1057516880 | 0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins | 2 | |||
rs775170915 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 2 | ||
rs528833893 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 2 | |||
rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 | |||
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs786204708 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 2 | |||
rs967339926 | 0.925 | 0.080 | 1 | 179552601 | splice donor variant | A/T | snv | 1.4E-05 | 2 | ||
rs1272948499 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 3 | ||
rs1553316575 | 0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del | 2 | |||
rs748812981 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 4 | |
rs1291398331 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 2 | ||
rs869025561 | 1.000 | 0.080 | 11 | 32392755 | missense variant | C/A | snv | 1 | |||
rs74315345 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 2 | |||
rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
rs1167223941 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 2 | |||
rs776016942 | 0.925 | 0.080 | 1 | 179551452 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
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 |