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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 13 | 27924267 | missense variant | G/A;T | snv | 2.1E-04; 4.2E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 12 | 120978923 | missense variant | GC/CT | mnv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.120 | 6 | 32758877 | missense variant | G/A;T | snv | 4.0E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.120 | 6 | 32661407 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.070 | 0.571 | 7 | 2001 | 2012 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.070 | 0.714 | 7 | 2001 | 2016 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | |||
|
9 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 0.030 | 0.667 | 3 | 2001 | 2018 | |||
|
7 | 0.807 | 0.240 | 4 | 15824935 | missense variant | C/A;T | snv | 8.0E-06; 4.4E-04 | 0.020 | 0.500 | 2 | 2001 | 2015 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.040 | 1 | 26911982 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.882 | 0.080 | 4 | 140562317 | missense variant | T/A | snv | 8.9E-02 | 6.5E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.120 | 10 | 95432529 | missense variant | G/A | snv | 1.4E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.040 | 1.000 | 4 | 2002 | 2008 | |||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2002 | |||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.080 | 7 | 44145167 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 | 0.010 | < 0.001 | 1 | 2002 | 2002 |