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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.750 | 8 | 2005 | 2014 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.750 | 4 | 2004 | 2013 | |||
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | < 0.001 | 3 | 2007 | 2012 | |||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.030 | 1.000 | 3 | 2004 | 2015 | ||||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 0.500 | 2 | 2011 | 2015 | |||
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2007 | 2015 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
8 | 0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 | 0.020 | < 0.001 | 2 | 2007 | 2011 | ||||
|
5 | 0.827 | 0.160 | 15 | 51344354 | intron variant | A/C | snv | 6.0E-02 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
10 | 0.790 | 0.240 | 15 | 51242350 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2017 |