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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 6 | 159692550 | missense variant | T/C | snv | 6.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.040 | 17 | 7674900 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 6 | 159688191 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 7 | 107893213 | missense variant | A/G;T | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
10 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.040 | 1.000 | 4 | 2011 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 4083309 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.080 | 14 | 73173585 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.080 | 15 | 89318738 | missense variant | G/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 7 | 107905413 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.925 | 0.040 | 17 | 7676182 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 12 | 117330477 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 |