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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.090 | 0.889 | 9 | 1999 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.875 | 8 | 1999 | 2014 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.080 | 0.875 | 8 | 1999 | 2014 | |||||
|
14 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.020 | 1.000 | 2 | 2001 | 2018 | ||||
|
15 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.030 | 1.000 | 3 | 2002 | 2015 | ||||
|
9 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
16 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
4 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||
|
3 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2016 | |||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
13 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 |