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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.955 | 22 | 2001 | 2014 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.100 | 0.944 | 18 | 2008 | 2018 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.100 | 0.900 | 10 | 2011 | 2017 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.870 | 0.875 | 8 | 2008 | 2018 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.060 | 1.000 | 6 | 2010 | 2017 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.830 | 1.000 | 6 | 2010 | 2018 | ||||
|
5 | 0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv | 0.050 | 0.800 | 5 | 2007 | 2018 | |||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.050 | 0.800 | 5 | 2013 | 2019 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.830 | 1.000 | 5 | 2010 | 2018 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2008 | 2016 | |||||
|
7 | 0.807 | 0.320 | 9 | 2691186 | regulatory region variant | A/G | snv | 0.56 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 0.667 | 3 | 2009 | 2018 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||
|
10 | 0.776 | 0.360 | 6 | 43957870 | intergenic variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2018 | 2018 | |||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
4 | 0.882 | 0.160 | 11 | 47259102 | splice region variant | G/A | snv | 0.11 | 0.020 | 1.000 | 2 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 88301614 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
8 | 0.807 | 0.240 | 7 | 150339575 | intron variant | T/G | snv | 0.11 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.020 | 0.500 | 2 | 2009 | 2013 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2019 | 2019 |