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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 11 | 2166716 | missense variant | G/A;T | snv | 6.9E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 128911903 | missense variant | G/A | snv | 2.2E-04 | 1.6E-04 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
11 | 0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 157135581 | missense variant | C/G | snv | 4.8E-05 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
20 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.240 | 15 | 101277522 | upstream gene variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 7670411 | 3 prime UTR variant | G/A | snv | 6.6E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.200 | 6 | 39066296 | missense variant | G/A;C | snv | 0.23; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.333 | 3 | 2001 | 2011 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.030 | 0.333 | 3 | 2001 | 2011 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 0.500 | 4 | 2010 | 2019 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.020 | 0.500 | 2 | 2009 | 2013 | ||||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.020 | 0.500 | 2 | 2015 | 2015 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2010 | 2013 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.020 | 0.500 | 2 | 2008 | 2015 |