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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 2 | 240788109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 2 | 240786339 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.360 | 4 | 6302385 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.851 | 0.080 | 2 | 240785066 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.360 | 4 | 6301846 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
8 | 0.807 | 0.200 | 14 | 74494329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
9 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2003 | 2011 | |||||
|
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 | |||||
|
10 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.240 | 9 | 136418630 | missense variant | G/A;C | snv | 4.0E-06 | 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 | |||||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 | |||||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 |