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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.889 | 9 | 2002 | 2016 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 0.667 | 3 | 2009 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 122119944 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
23 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
7 | 0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 | 0.020 | 1.000 | 2 | 2001 | 2014 | ||||
|
12 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 14 | 24574706 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
11 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 114693436 | stop gained | G/A;T | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 3 | 122102296 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 3 | 122052011 | upstream gene variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 10 | 44379119 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.120 | 17 | 34254988 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 |