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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.955 | 22 | 2001 | 2014 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.080 | 0.875 | 8 | 2002 | 2015 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.080 | 0.875 | 8 | 2008 | 2018 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2011 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.870 | 0.875 | 8 | 2008 | 2018 | |||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.070 | 1.000 | 7 | 2007 | 2016 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.060 | 1.000 | 6 | 2010 | 2017 | |||||
|
5 | 0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv | 0.050 | 0.800 | 5 | 2007 | 2018 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.050 | 1.000 | 5 | 2005 | 2016 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 1.000 | 4 | 2001 | 2012 | ||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2000 | 2011 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2008 | 2016 | |||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 0.667 | 3 | 2009 | 2018 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.333 | 3 | 2001 | 2011 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2011 | ||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.720 | 1.000 | 3 | 2008 | 2019 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||
|
10 | 0.776 | 0.360 | 6 | 43957870 | intergenic variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 18 | 12274105 | missense variant | G/A;C;T | snv | 1.2E-05; 0.37 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 88301614 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
7 | 0.807 | 0.200 | 20 | 44351775 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 |