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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.030 | 1.000 | 3 | 2006 | 2014 | |||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 1998 | 2018 | |||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
10 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2010 | |||
|
1 | 1.000 | 0.120 | 20 | 4675114 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.160 | 20 | 4725072 | missense variant | C/G;T | snv | 4.1E-06; 0.46 | 0.52 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 10 | 103458602 | synonymous variant | T/C | snv | 0.81 | 0.83 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 10 | 103455334 | missense variant | C/A;T | snv | 2.0E-05; 1.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 103455459 | missense variant | C/A | snv | 1.6E-02 | 1.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 10 | 103458497 | synonymous variant | C/A;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 16 | 85517 | missense variant | G/A | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.120 | 7 | 30922174 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |