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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 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 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 17 | 64370017 | missense variant | A/G | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 7 | 134448044 | missense variant | G/A | snv | 6.4E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
7 | 0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.160 | 6 | 43777546 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
5 | 0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
8 | 0.790 | 0.280 | 17 | 1769982 | missense variant | C/T | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 17 | 1762036 | 5 prime UTR variant | C/A | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.160 | 5 | 53048731 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.030 | 0.667 | 3 | 2006 | 2009 | |||
|
1 | 1.000 | 0.120 | 17 | 1761175 | upstream gene variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 1761607 | upstream gene variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2007 | 2009 |