| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 12 | 102843676 | missense variant | T/C | snv | 9.9E-05 | 7.7E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2006 | |||||||
|
1.000 | 0.120 | 12 | 102894756 | stop gained | G/A | snv | 2.8E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 2000 | 2003 | |||||||
|
1.000 | 0.120 | 12 | 102894883 | missense variant | T/A | snv | 4.8E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2000 | 2019 | |||||||
|
1.000 | 0.120 | 12 | 102844359 | missense variant | G/C | snv | 1.0E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.120 | 12 | 102912842 | missense variant | G/C | snv | 9.5E-05 | 9.1E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.120 | 12 | 102852882 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.120 | 12 | 102843662 | missense variant | C/G | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.160 | 12 | 102852815 | missense variant | G/A | snv | 1.0E-04 | 1.3E-04 |
|
0.020 | 1.000 | 2 | 2003 | 2012 | |||||||
|
12 | 102912804 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.925 | 0.120 | 12 | 102852936 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.120 | 12 | 102866632 | missense variant | C/G;T | snv | 8.0E-06; 9.2E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 12 | 102840468 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 12 | 102855150 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 12 | 102912791 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 12 | 102843646 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 102852941 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.120 | 12 | 102866623 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 12 | 102840477 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 12 | 102840497 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 12 | 102866641 | missense variant | C/G;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 |