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 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 15 | 55860531 | missense variant | T/C | snv | 0.74 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
21 | 0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
13 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 14 | 64232214 | 3 prime UTR variant | G/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.120 | 18 | 26850565 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
69 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.040 | 21 | 41436789 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
8 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 |