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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 | 0.830 | 1.000 | 4 | 2008 | 2013 | ||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.810 | 1.000 | 4 | 2007 | 2010 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.040 | 0.500 | 4 | 2006 | 2019 | |||
|
6 | 0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 | 0.840 | 1.000 | 4 | 2007 | 2010 | ||||
|
1 | 1.000 | 0.120 | 18 | 12835977 | intron variant | T/C | snv | 0.35 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.040 | 0.750 | 4 | 2007 | 2013 | ||||
|
4 | 0.851 | 0.240 | 16 | 11075826 | intron variant | T/G | snv | 0.42 | 0.740 | 1.000 | 4 | 2007 | 2013 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2007 | 2019 | |||||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.810 | 1.000 | 3 | 2007 | 2017 | ||||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.030 | 0.667 | 3 | 2006 | 2009 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2009 | 2012 | ||||
|
5 | 0.851 | 0.360 | 6 | 90248512 | intron variant | C/G | snv | 0.36 | 0.800 | 1.000 | 3 | 2008 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2006 | |||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.030 | 1.000 | 3 | 1998 | 2003 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.030 | 1.000 | 3 | 2003 | 2004 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 1.000 | 3 | 2008 | 2008 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2008 | 2008 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
4 | 0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv | 0.820 | 1.000 | 3 | 2009 | 2019 | |||||
|
8 | 0.807 | 0.200 | 22 | 37195278 | intron variant | G/A | snv | 0.49 | 0.810 | 1.000 | 3 | 2008 | 2015 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
9 | 0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 | 0.720 | 1.000 | 3 | 2010 | 2015 | |||
|
13 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 0.030 | 1.000 | 3 | 2012 | 2015 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.030 | 1.000 | 3 | 2007 | 2018 |