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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.730 | 1.000 | 4 | 2010 | 2017 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183040142 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183083398 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.120 | 1 | 230101356 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 1 | 150754918 | intron variant | G/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 17 | 37232521 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 37111115 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 1 | 230148017 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 11 | 116765068 | intron variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.160 | 19 | 6718523 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 20 | 47540255 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 |