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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 21 | 36135203 | missense variant | G/A;C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 9 | 130884973 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 26278736 | missense variant | G/A | snv | 9.1E-05 | 3.1E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 26277125 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 14 | 1999 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 1.000 | 7 | 2004 | 2019 | |||||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | |||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2020 | |||||||||
|
1.000 | 0.200 | 16 | 53873837 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 11 | 125900000 | missense variant | A/G | snv | 1.1E-03 | 1.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.400 | 3 | 167704889 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |