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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 19 | 29207763 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.120 | 11 | 66850270 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 29208159 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 29213078 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.160 | X | 19350044 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 0.700 | 0 | |||||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 12 | 98595490 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.851 | 0.120 | 11 | 34995002 | stop gained | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 6 | 30920187 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 3 | 128909410 | missense variant | C/T | snv | 7.2E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.040 | 16 | 21965440 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 3 | 128906139 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |