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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2006 | ||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
15 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2006 | |||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
7 | 0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
5 | 0.851 | 0.240 | 7 | 117540273 | missense variant | T/A | snv | 1.4E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.851 | 0.160 | 7 | 76058047 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
11 | 0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
11 | 0.807 | 0.320 | 17 | 80110055 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |