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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.730 | 1.000 | 23 | 1994 | 2019 | ||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.730 | 1.000 | 10 | 2010 | 2016 | |||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.730 | 1.000 | 5 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.160 | 5 | 56727256 | intergenic variant | T/C;G | snv | 0.22 | 0.730 | 1.000 | 4 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 | 0.730 | 1.000 | 4 | 2012 | 2020 | ||||
|
3 | 0.882 | 0.080 | 21 | 15148511 | intergenic variant | G/A | snv | 0.32 | 0.730 | 0.750 | 4 | 2012 | 2015 | ||||
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 0.730 | 0.750 | 4 | 2013 | 2018 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.730 | 1.000 | 3 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.080 | 6 | 151618215 | 3 prime UTR variant | A/C | snv | 6.9E-02 | 0.730 | 1.000 | 3 | 2011 | 2016 | ||||
|
5 | 0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 | 0.730 | 1.000 | 3 | 2003 | 2017 | ||||
|
7 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 0.720 | 1.000 | 5 | 2007 | 2013 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.720 | 1.000 | 4 | 2013 | 2015 | |||||
|
5 | 0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 | 0.720 | 1.000 | 4 | 2014 | 2016 | |||
|
4 | 0.851 | 0.080 | 10 | 79081391 | intron variant | T/C | snv | 0.71 | 0.720 | 1.000 | 4 | 2010 | 2016 | ||||
|
5 | 0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 | 0.720 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.080 | 16 | 52601088 | intron variant | C/T | snv | 0.19 | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
4 | 0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 | 0.720 | 1.000 | 3 | 2013 | 2019 | |||
|
3 | 0.882 | 0.080 | 10 | 5844771 | upstream gene variant | C/T | snv | 0.47 | 0.720 | 1.000 | 3 | 2010 | 2012 | ||||
|
6 | 0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 | 0.720 | 1.000 | 3 | 2011 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 | 0.720 | 1.000 | 2 | 2011 | 2016 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.720 | 1.000 | 2 | 2012 | 2015 | ||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.720 | 0.500 | 2 | 2012 | 2016 | |||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 2 | 1998 | 1999 |