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 | 7 | 2010 | 2018 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 6 | 2009 | 2018 | |||||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.730 | 1.000 | 5 | 2010 | 2018 | |||||
|
6 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2014 | 2019 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 28904318 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 40827064 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
7 | 0.827 | 0.160 | 1 | 200041696 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 130995762 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 0.700 | 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 | ||||
|
2 | 1.000 | 0.120 | 11 | 27501639 | intron variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 0.700 | 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 | ||||
|
3 | 0.882 | 0.160 | 9 | 87620879 | intron variant | A/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
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 | 12 | 120990604 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 |