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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.320 | 2 | 102100877 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 68856761 | intron variant | G/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 10 | 68867495 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 11 | 27596469 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 11 | 27643996 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 111807366 | intron variant | A/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 31575804 | frameshift variant | AG/- | del | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2013 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2018 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 1 | 102986836 | intron variant | A/C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 12 | 117331048 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 10 | 68892516 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 20 | 46011590 | synonymous variant | C/T | snv | 2.0E-03 | 8.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 63952008 | intron variant | T/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 129711546 | intron variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 12 | 111809150 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 11 | 27561582 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 |