Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 3 | 132683487 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 5927733 | stop gained | C/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 110201484 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 110163048 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 3 | 121781772 | stop gained | G/A | snv | 6.8E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 100297017 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 100284591 | stop gained | A/G;T | snv | 3.1E-04 | 3.3E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 2 | 165888354 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132699352 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88071370 | frameshift variant | CTCGT/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88080196 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88093873 | stop gained | TC/CA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132686280 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132688818 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 132719814 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 100126450 | frameshift variant | -/CAGA | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88077770 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 132699988 | stop gained | C/A;T | snv | 8.0E-06; 5.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 5874973 | frameshift variant | -/GAGCG | delins | 1.2E-05 | 0.700 | 0 |