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 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.040 | 8 | 144096615 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | < 0.001 | 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 | 2014 | 2014 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 46769424 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 44149986 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 89568628 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2006 | 2018 |