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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.909 | 44 | 2003 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.909 | 44 | 2003 | 2019 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.060 | 1.000 | 6 | 2003 | 2019 | |||||||||
|
0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2015 | ||||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2006 | |||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |