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 | 0.070 | 1.000 | 7 | 1996 | 2003 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 1.000 | 4 | 2001 | 2002 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 1.000 | 4 | 2001 | 2002 | |||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2008 | ||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
9 | 0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.040 | 22 | 24627519 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.080 | 2 | 43813262 | missense variant | G/C | snv | 0.21 | 0.21 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 7 | 80656687 | missense variant | C/T | snv | 1.1E-03 | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |