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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 83975466 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 12 | 6939148 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
14 | 0.827 | 0.280 | 9 | 136418847 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.240 | 9 | 136418630 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 0.700 | 0 |