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 | 0.040 | 1.000 | 4 | 2013 | 2016 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 19 | 41337556 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.120 | 6 | 52240759 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 8 | 9751081 | intron variant | C/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 2 | 201190589 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 10 | 91857549 | intron variant | A/G | snv | 0.71 | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.080 | 2 | 56019205 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 5 | 1271959 | intron variant | C/T | snv | 5.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 10 | 91833770 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 3 | 155548315 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.080 | 21 | 36074727 | intron variant | T/C | snv | 0.63 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 |