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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 7 | 93426338 | 3 prime UTR variant | G/A | snv | 0.15 | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.280 | 10 | 67875446 | downstream gene variant | T/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 2 | 70959974 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 1 | 21577539 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 13 | 42128575 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.320 | 4 | 186544404 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 137232889 | missense variant | C/G;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.776 | 0.320 | 10 | 67915401 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | X | 50090846 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.160 | X | 50086551 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
19 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 13 | 42229127 | missense variant | T/C | snv | 4.5E-02 | 2.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.120 | 2 | 182241913 | start lost | A/C | snv | 1.5E-03 | 5.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.200 | 3 | 48628699 | missense variant | C/A;G | snv | 1.8E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.240 | 9 | 137233223 | missense variant | C/G;T | snv | 4.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 12 | 14851655 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 21 | 36462343 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 |