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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.020 | 0.500 | 2 | 2007 | 2008 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 0.500 | 2 | 2007 | 2008 | ||||||||
|
0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 9 | 125460061 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.120 | 8 | 139800104 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 10 | 100186688 | upstream gene variant | C/T | snv | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 21 | 46431895 | missense variant | G/A;T | snv | 5.5E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 9 | 93301408 | intron variant | T/G | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.240 | 9 | 104928169 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 11 | 46725970 | missense variant | G/A;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 2 | 230868988 | intron variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 7 | 99770202 | missense variant | T/A;C | snv | 4.1E-04 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.160 | 6 | 117301021 | missense variant | G/C | snv | 0.20 | 0.19 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 7 | 74083398 | intron variant | A/G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 19 | 38566975 | missense variant | C/G;T | snv | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 21 | 46431646 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 11 | 46723267 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |