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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 12 | 114361761 | intron variant | C/A | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 18 | 79454468 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 14 | 73211255 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 135910326 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.120 | 15 | 67146869 | intron variant | T/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 2 | 135956608 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 79466368 | intron variant | G/A | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.120 | 2 | 47073816 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.080 | 12 | 114355868 | stop gained | G/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 15 | 89750880 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
17 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 0.700 | 1.000 | 5 | 2007 | 2011 | |||||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
4 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 0.020 | 0.500 | 2 | 2009 | 2010 | ||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |