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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 1 | 161306863 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.280 | 10 | 100989114 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.851 | 0.280 | 10 | 100988541 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 11 | 95849784 | stop gained | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.160 | 11 | 95847803 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 1.000 | 0.120 | 12 | 80670365 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.200 | 12 | 32640442 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 91877555 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 14 | 101979951 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.882 | 0.200 | X | 71224209 | missense variant | T/G | snv | 0.700 | 0 |