Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 226895548 | missense variant | A/C | snv | 3.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 1.000 | 0.080 | 14 | 73198095 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 14 | 73192862 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.050 | 1.000 | 5 | 1997 | 2016 | |||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 14 | 73173669 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.040 | 0.500 | 4 | 2000 | 2013 | |||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1998 | 2003 | |||||
|
3 | 0.925 | 0.080 | 21 | 25911833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.080 | 21 | 25891765 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
13 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 127070588 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 12215024 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.080 | 1.000 | 8 | 1996 | 2019 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.020 | 1.000 | 2 | 2013 | 2014 |