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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2004 | 2012 | |||||
|
6 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.080 | 10 | 91588363 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 7 | 86702440 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.040 | 5 | 135540941 | upstream gene variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.120 | 10 | 81896770 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
17 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.040 | 17 | 66796013 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 2 | 54622367 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 169611580 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 |