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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.200 | X | 44245292 | intron variant | A/G | snv | 0.23 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.200 | 22 | 50627389 | missense variant | C/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | Y | 2787267 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||
|
3 | 0.882 | 0.200 | Y | 2787551 | missense variant | C/T | snv | 4.4E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.200 | 9 | 124500571 | missense variant | G/A;C | snv | 6.7E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.280 | 12 | 93573979 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.280 | 19 | 17183487 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.240 | 11 | 57333494 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.851 | 0.200 | 9 | 124493143 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.807 | 0.240 | Y | 2787320 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
7 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
20 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2010 | 2020 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.500 | 4 | 2008 | 2015 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 2008 | 2015 |