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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 16 | 55485700 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 45492058 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 1999 | 2014 | ||||
|
2 | 0.925 | 0.080 | 10 | 121520092 | missense variant | A/C | snv | 0.700 | 1.000 | 6 | 1998 | 2014 | |||||
|
4 | 0.851 | 0.120 | 10 | 121517391 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 1995 | 2018 | |||||
|
25 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 1994 | 2017 | |||||
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121520160 | missense variant | GGC/AAG | mnv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 0.710 | 1.000 | 5 | 1996 | 2014 | |||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.800 | 0.960 | 25 | 1995 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 121520162 | missense variant | CG/AA | mnv | 0.810 | 1.000 | 8 | 1995 | 2004 | |||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.900 | 1.000 | 30 | 1995 | 2018 |