Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315401 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 32 | |||
rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 | ||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs1208636573 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 15 | ||
rs622288 | 0.807 | 0.120 | 1 | 155612848 | missense variant | C/T | snv | 3.6E-05 | 4.2E-05 | 15 | |
rs121908212 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 14 | |||
rs201650281 | 0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 | 8 | |
rs1555119899 | 0.925 | 0.240 | 11 | 108326149 | missense variant | G/C | snv | 7 | |||
rs74315402 | 0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv | 7 | |||
rs886039904 | 0.851 | 0.200 | 1 | 228157836 | frameshift variant | G/- | del | 6 | |||
rs1563390893 | 0.851 | 0.200 | 8 | 60281047 | splice donor variant | C/T | snv | 5 | |||
rs772410450 | 0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs201128942 | 0.851 | 0.120 | 6 | 85547112 | stop gained | C/A;T | snv | 2.4E-05 | 4.2E-05 | 5 | |
rs773819452 | 0.851 | 0.200 | 10 | 73160449 | missense variant | G/A | snv | 4.2E-06 | 4 | ||
rs770499406 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs104894699 | 0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv | 4 | |||
rs1555789140 | 0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins | 4 | |||
rs121908215 | 0.882 | 0.160 | 19 | 13359707 | missense variant | C/T | snv | 3 | |||
rs387906881 | 0.925 | 0.120 | 17 | 46935122 | missense variant | G/T | snv | 6.0E-05 | 8.4E-05 | 3 | |
rs797044872 | 0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv | 3 | |||
rs121908220 | 0.925 | 0.120 | 19 | 13235685 | missense variant | G/A | snv | 2 | |||
rs121908236 | 0.925 | 0.160 | 19 | 13359724 | missense variant | C/T | snv | 2 |