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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 0.667 | 3 | 2002 | 2006 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2010 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 18 | 37634043 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
12 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.280 | 9 | 6240084 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2007 | |||
|
5 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.240 | 1 | 186674409 | missense variant | C/T | snv | 1.6E-03 | 5.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.160 | 13 | 108308037 | 3 prime UTR variant | T/A | snv | 2.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 |