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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2004 | 2014 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
18 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2008 | 2018 |