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 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 20 | 50082788 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
6 | 0.882 | 0.160 | 21 | 6486334 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.850 | 1.000 | 7 | 2013 | 2019 | ||||
|
8 | 0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
21 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
12 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
7 | 0.827 | 0.280 | 11 | 66063413 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |