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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 5 | 132682440 | intron variant | A/G | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 6 | 34085889 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.120 | 3 | 11358775 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 9 | 113391072 | intron variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 25312674 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 3 | 186854025 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.160 | 2 | 112777253 | intron variant | G/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.200 | 2 | 112775308 | intron variant | G/T | snv | 0.64 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.160 | 3 | 52397655 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 1 | 50441766 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 16 | 27332642 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 11 | 108306370 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 3 | 11549277 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 149711150 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 40491752 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 |