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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.030 | 1.000 | 3 | 2003 | 2005 | |||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.030 | 1.000 | 3 | 2014 | 2015 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.030 | 0.667 | 3 | 2004 | 2011 | |||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | |||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.030 | 0.667 | 3 | 2012 | 2019 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.020 | 1.000 | 2 | 2003 | 2008 | |||||||
|
0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2002 | 2003 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1998 | 2007 | |||||||||
|
0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 |
|
0.020 | 0.500 | 2 | 2011 | 2019 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 1.000 | 2 | 1998 | 2007 |