Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 41 | |||
rs797045412 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 17 | |||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs917411291 | 0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv | 9 | |||
rs587777450 | 0.790 | 0.320 | 18 | 10671729 | missense variant | C/T | snv | 9 | |||
rs121434589 | 0.851 | 0.200 | 17 | 10535137 | missense variant | C/T | snv | 8 | |||
rs1057519320 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 7 | |||
rs1057519321 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 7 | |||
rs1057518887 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 7 | |||
rs1555642784 | 0.851 | 0.160 | 17 | 42688979 | frameshift variant | -/C | delins | 5 | |||
rs1569044747 | 0.882 | 0.120 | 22 | 37139219 | stop gained | G/A | snv | 5 | |||
rs1558005340 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 4 | |||
rs1558008455 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 4 | |||
rs1563406024 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 4 | |||
rs267607038 | 0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 | 4 | ||
rs786201003 | 0.925 | 0.080 | 13 | 101083752 | missense variant | C/T | snv | 3 | |||
rs1568069621 | 0.925 | 0.080 | 18 | 10797517 | stop gained | G/A | snv | 3 | |||
rs749355583 | 0.925 | 0.080 | 6 | 142309560 | stop gained | C/G;T | snv | 4.1E-06 | 2 | ||
rs793888524 | 0.925 | 0.080 | 6 | 142405702 | frameshift variant | -/G | delins | 2 | |||
rs793888525 | 0.925 | 0.080 | 6 | 142408187 | missense variant | T/A | snv | 2 | |||
rs886041709 | 1.000 | 0.080 | 1 | 197125045 | splice donor variant | C/G | snv | 2 | |||
rs552094593 | 1.000 | 0.080 | 3 | 81537021 | missense variant | G/A;T | snv | 8.9E-06 | 2 | ||
rs750803388 | 1.000 | 0.080 | 15 | 51404526 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 2 | |
rs121434409 | 0.925 | 0.120 | 9 | 128541124 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 | 2 |