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 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 5 | 162093956 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.080 | 6 | 52452799 | missense variant | T/C | snv | 3.5E-03 | 2.4E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 2 | 219574380 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 2 | 165388746 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |