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 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1989 | 1989 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1995 | 1997 | |||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
7 | 0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 1998 | 2000 | ||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 8 | 104248720 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
17 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
6 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.120 | 19 | 11113699 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
9 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
9 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.080 | 2 | 113132839 | missense variant | G/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.020 | 1.000 | 2 | 2002 | 2004 | |||
|
2 | 0.925 | 0.040 | 4 | 11406961 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 |