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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 2 | 47806359 | splice donor variant | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
3 | 0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
8 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
5 | 0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 1 | 85267691 | missense variant | C/T | snv | 8.0E-06; 6.5E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.080 | 2 | 47475228 | missense variant | G/A | snv | 1.3E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 3 | 37048583 | missense variant | A/G;T | snv | 1.1E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.080 | 2 | 47475228 | frameshift variant | GT/- | del | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.050 | 0.800 | 5 | 2004 | 2015 | |||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.030 | 1.000 | 3 | 2004 | 2015 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.750 | 8 | 2005 | 2014 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.750 | 8 | 2005 | 2014 |