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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
16 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 59594048 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | X | 55488927 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 | 0.700 | 0 | |||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 19 | 53636878 | stop gained | C/T | snv | 3.5E-04 | 3.6E-04 | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
36 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 61273265 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | X | 54757697 | stop gained | G/A;C | snv | 5.4E-06 | 0.700 | 0 | |||||||||
|
6 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 19 | 58480401 | stop gained | G/A | snv | 8.1E-06 | 4.9E-05 | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.200 | 3 | 48590258 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 12 | 122377616 | stop gained | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||||
|
1 | X | 151962587 | stop gained | G/T | snv | 1.1E-05 | 2.8E-05 | 0.700 | 0 |