| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 80633904 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
5 | 151851530 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 1 | 11022196 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
4 | 73406645 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.882 | 0.120 | 10 | 99716419 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 154275165 | stop gained | C/T | snv | 3.6E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 20 | 18497075 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
19 | 49909654 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 20 | 45253726 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.120 | 1 | 11018836 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 11850867 | stop gained | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |