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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 5 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.730 | 1.000 | 4 | 2010 | 2018 | |||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 4 | 2009 | 2015 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.160 | 1 | 200041696 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 11 | 9951515 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 21 | 29305751 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 21 | 29313290 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 21 | 29328775 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 16 | 50327466 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 16 | 79005703 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 21 | 29348513 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 11 | 9907995 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 12056502 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 4 | 79043433 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |