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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.050 | 1.000 | 5 | 2009 | 2019 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.720 | 1.000 | 4 | 2013 | 2015 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.040 | 0.750 | 4 | 2012 | 2019 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.040 | 1.000 | 4 | 2012 | 2015 | |||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2014 | 2019 | |||||
|
4 | 0.851 | 0.080 | 10 | 79081391 | intron variant | T/C | snv | 0.71 | 0.720 | 1.000 | 4 | 2010 | 2016 | ||||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.040 | 0.750 | 4 | 2015 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
4 | 0.851 | 0.120 | 14 | 68564567 | intron variant | T/A;C | snv | 0.030 | 0.667 | 3 | 2010 | 2019 | |||||
|
5 | 0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 | 0.720 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.080 | 16 | 52601088 | intron variant | C/T | snv | 0.19 | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||
|
6 | 0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2008 | 2013 | |||||
|
7 | 0.790 | 0.240 | 14 | 103699590 | intron variant | T/A;C | snv | 0.31 | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 0.333 | 3 | 2012 | 2014 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
14 | 0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 | 0.030 | 0.667 | 3 | 2013 | 2018 | |||
|
16 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 0.030 | 1.000 | 3 | 2008 | 2010 | |||||
|
6 | 0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
20 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
5 | 0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
11 | 0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
7 | 0.790 | 0.200 | 15 | 51243825 | intron variant | C/T | snv | 0.36 | 0.030 | 0.667 | 3 | 2008 | 2019 |