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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
6 | 0.851 | 0.200 | 12 | 121155216 | intron variant | C/T | snv | 0.15 | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 3 | 38904493 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38924745 | intron variant | G/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38865054 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 166325017 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 8 | 72037366 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 3 | 38865732 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 6 | 33179950 | intron variant | G/A | snv | 2.9E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 6 | 16362511 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.320 | 6 | 31576050 | intron variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.360 | 7 | 22728953 | intron variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 21 | 37811882 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 24575924 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 10 | 99798989 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 35737829 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 |