| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 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 | |||||||
|
0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2013 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.040 | 1.000 | 4 | 2007 | 2017 | |||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |