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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.040 | 1.000 | 4 | 2016 | 2018 | |||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
11 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.742 | 0.440 | 11 | 34461361 | synonymous variant | C/T | snv | 0.25 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.752 | 0.360 | 19 | 41341955 | missense variant | G/A | snv | 2.6E-02 | 2.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.752 | 0.320 | 8 | 89955483 | synonymous variant | A/G | snv | 0.47 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.240 | 2 | 46329206 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 |