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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |