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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.030 | 0.333 | 3 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.240 | 20 | 54169534 | intron variant | T/C | snv | 0.20 | 0.030 | 0.667 | 3 | 2018 | 2020 | ||||
|
11 | 0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 | 0.030 | 0.667 | 3 | 2013 | 2015 | ||||
|
16 | 0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 | 0.030 | 0.667 | 3 | 2013 | 2015 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
7 | 0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.020 | < 0.001 | 2 | 2013 | 2017 | ||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
9 | 0.827 | 0.280 | X | 49252667 | intron variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
11 | 0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2013 |