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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 11 | 96266936 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
16 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.030 | 0.667 | 3 | 2015 | 2018 | |||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 19 | 10113872 | missense variant | G/A | snv | 0.16 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
25 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.851 | 0.160 | 17 | 7673752 | missense variant | G/A;C | snv | 1.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 19 | 10707507 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |