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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-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 | |||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
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 | ||||||||
|
0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 |
|
0.020 | 1.000 | 2 | 2006 | 2010 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 6 | 151944233 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 6 | 151944239 | missense variant | G/C | snv | 3.6E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
10 | 43119635 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 11 | 101128241 | missense variant | G/C;T | snv | 4.7E-06; 4.7E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.050 | 1.000 | 5 | 2007 | 2013 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
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 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
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 | ||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 12 | 132847076 | missense variant | C/T | snv | 0.18 | 0.21 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 11 | 112087944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 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 |
|
0.060 | 1.000 | 6 | 2009 | 2016 |