| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.280 | 12 | 102852875 | missense variant | C/A;G;T | snv | 2.2E-04 |
|
0.040 | 1.000 | 4 | 1991 | 2002 | ||||||||
|
0.925 | 0.120 | 12 | 102894893 | missense variant | A/C;G;T | snv | 2.7E-04 |
|
0.040 | 1.000 | 4 | 1993 | 2001 | ||||||||
|
1.000 | 0.120 | 12 | 102852903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06 |
|
0.030 | 1.000 | 3 | 1994 | 2011 | ||||||||
|
1.000 | 0.120 | 12 | 102843683 | missense variant | C/G;T | snv | 8.4E-05 |
|
0.030 | 1.000 | 3 | 1995 | 1998 | ||||||||
|
1.000 | 0.120 | 12 | 102852929 | missense variant | C/A;T | snv | 7.6E-05 |
|
0.020 | 1.000 | 2 | 1991 | 2018 | ||||||||
|
1.000 | 0.120 | 12 | 102844356 | missense variant | A/C;G | snv | 6.8E-05 |
|
0.020 | 1.000 | 2 | 1993 | 1995 | ||||||||
|
1.000 | 0.120 | 12 | 102852819 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 |
|
0.020 | 1.000 | 2 | 1989 | 1997 | ||||||||
|
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 | 102912791 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 12 | 102877475 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
12 | 102912804 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
1.000 | 0.120 | 12 | 102843646 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 12 | 102866641 | missense variant | C/G;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
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 | ||||||||
|
12 | 102852941 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.120 | 12 | 102843761 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
1.000 | 0.120 | 12 | 102855150 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 12 | 102855222 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.120 | 12 | 102852882 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
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 | ||||||||
|
0.925 | 0.120 | 12 | 102852923 | missense variant | A/G;T | snv | 4.8E-04; 2.4E-05 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | ||||||||
|
0.925 | 0.120 | 12 | 102852922 | missense variant | CA/TG | mnv |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||||
|
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 | ||||||||
|
1.000 | 0.120 | 12 | 102855231 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1991 | 1991 |