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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.827 | 0.200 | 14 | 56804268 | frameshift variant | ACA/CC | delins | 0.700 | 0 | ||||||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 41534892 | splice donor variant | C/AT | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 7 | 105107527 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
18 | 0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 2 | 65010729 | missense variant | G/A | snv | 2.3E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
16 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 2 | 162282494 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.160 | X | 53412950 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 21 | 37506191 | stop gained | C/T | snv | 0.700 | 0 |