| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.030 | 0.667 | 3 | 2003 | 2015 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.030 | 0.667 | 3 | 2003 | 2015 | |||||||||
|
0.882 | 0.080 | 8 | 16168568 | missense variant | C/A;G;T | snv | 1.6E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2006 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.020 | 0.500 | 2 | 2003 | 2014 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.020 | 1.000 | 2 | 2003 | 2016 | |||||||
|
0.851 | 0.280 | 2 | 31529323 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.160 | 11 | 65570699 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 |
|
0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 7675212 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 7 | 95315388 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.750 | 16 | 2004 | 2016 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.100 | 0.692 | 13 | 2004 | 2014 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.727 | 11 | 2004 | 2016 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.900 | 10 | 2004 | 2018 | |||||||
|
0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 |
|
0.080 | 0.875 | 8 | 2004 | 2019 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.070 | 0.857 | 7 | 2004 | 2017 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.070 | 0.857 | 7 | 2004 | 2018 | ||||||||
|
0.827 | 0.120 | 8 | 16155085 | stop gained | G/A;C | snv | 8.3E-03; 2.8E-05 |
|
0.060 | 1.000 | 6 | 2004 | 2006 | ||||||||
|
0.882 | 0.200 | 21 | 41480570 | missense variant | C/T | snv | 0.24 | 0.25 |
|
0.030 | 1.000 | 3 | 2004 | 2014 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.030 | 1.000 | 3 | 2004 | 2008 | ||||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.030 | 0.667 | 3 | 2004 | 2009 | ||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.030 | 0.667 | 3 | 2004 | 2019 | ||||||||
|
0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 |
|
0.030 | 1.000 | 3 | 2004 | 2005 | |||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.030 | 1.000 | 3 | 2004 | 2012 |