Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.160 | 21 | 6486334 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
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 | ||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.752 | 0.200 | 10 | 49470671 | missense variant | T/C | snv | 0.22 | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 108270407 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |