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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 1 | 7790021 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.040 | 11 | 13374619 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 11 | 13280374 | intron variant | G/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.925 | 0.080 | 6 | 104416939 | intergenic variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 11 | 13328584 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.925 | 0.080 | 11 | 13363769 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 4 | 55440643 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 |