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 | 1.000 | 0.080 | 1 | 65616036 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.100 | 0.850 | 20 | 1999 | 2018 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.100 | 0.846 | 13 | 1999 | 2015 | ||||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.100 | 1.000 | 13 | 1999 | 2014 | |||
|
2 | 1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 | 0.700 | 1.000 | 11 | 1999 | 2011 | |||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.040 | 0.750 | 4 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 60371940 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.100 | 0.786 | 14 | 2000 | 2017 | |||
|
1 | 1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2000 | 2014 | |||
|
2 | 0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.160 | 9 | 6589230 | missense variant | C/G;T | snv | 8.7E-05; 2.3E-02 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 5 | 71719917 | missense variant | G/A;C | snv | 4.0E-06; 1.0E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.100 | 0.903 | 31 | 2001 | 2018 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.100 | 1.000 | 10 | 2001 | 2018 | |||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.080 | 1.000 | 8 | 2001 | 2019 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.070 | 0.714 | 7 | 2001 | 2010 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.060 | 0.667 | 6 | 2001 | 2016 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.050 | 1.000 | 5 | 2001 | 2016 | ||||
|
9 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.120 | 10 | 95432529 | missense variant | G/A | snv | 1.4E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.080 | 2 | 25161179 | missense variant | G/C | snv | 2.7E-03 | 2.8E-03 | 0.030 | 1.000 | 3 | 2002 | 2016 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.030 | 1.000 | 3 | 2002 | 2012 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2012 |