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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.070 | 1.000 | 7 | 2003 | 2018 | |||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 3 | 193637313 | intron variant | T/A;C | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 7 | 116508316 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 5 | 111103810 | missense variant | A/C;G | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.040 | 1 | 171652139 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 12 | 106956310 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 1 | 171638703 | missense variant | G/A;C | snv | 4.0E-06; 7.6E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 3 | 16354161 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.040 | 10 | 20349956 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 13122411 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 116576975 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 4 | 147542603 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 2 | 45419685 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.060 | 1.000 | 6 | 2003 | 2007 | |||
|
3 | 0.882 | 0.040 | 1 | 171652385 | missense variant | C/T | snv | 0.15 | 0.11 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.040 | 10 | 68231992 | 5 prime UTR variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.040 | 20 | 46011053 | splice region variant | G/T | snv | 0.15 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 12 | 82698057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 |