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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
11 | 0.807 | 0.320 | 17 | 80110055 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.280 | 17 | 63833908 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 17 | 63837439 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins | 0.700 | 0 | ||||||||
|
18 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.240 | 14 | 74493191 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
18 | 0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 3 | 122106342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 207473578 | missense variant | G/A | snv | 0.26 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 |