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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 1 | 161038745 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 161041926 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.200 | 2 | 106026098 | regulatory region variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 6 | 41278895 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2000 | 2002 | |||||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2000 | 2015 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 1997 | 2000 | |||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
3 | 0.882 | 0.200 | 21 | 26051053 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.160 | 22 | 40407449 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 |