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 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.320 | 12 | 122170805 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 12 | 49091165 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 17817033 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
19 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 31777398 | missense variant | A/C;G | snv | 4.6E-03; 4.0E-06 | 0.740 | 0.800 | 5 | 2002 | 2011 | ||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 17816972 | missense variant | G/A;C | snv | 3.5E-04; 4.0E-06 | 0.800 | 1.000 | 3 | 2000 | 2003 |