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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 1 | 152784619 | upstream gene variant | AT/- | del | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.360 | 16 | 89279567 | frameshift variant | GGCTTCGG/- | delins | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.800 | 1.000 | 16 | 2006 | 2018 | ||||
|
5 | 0.851 | 0.160 | 5 | 148101392 | missense variant | A/G | snv | 0.52 | 0.44 | 0.060 | 1.000 | 6 | 2004 | 2012 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.060 | 0.833 | 6 | 2008 | 2019 | |||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.840 | 0.833 | 6 | 2009 | 2017 | ||||
|
6 | 0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 | 0.820 | 1.000 | 5 | 2011 | 2015 | ||||
|
5 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 0.040 | 1.000 | 4 | 2011 | 2015 | |||
|
2 | 0.925 | 0.120 | 5 | 132713335 | intron variant | C/A;T | snv | 0.820 | 1.000 | 4 | 2011 | 2015 | |||||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.040 | 0.750 | 4 | 2002 | 2016 | ||||
|
7 | 0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 | 0.030 | 1.000 | 3 | 2010 | 2020 | ||||
|
4 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.810 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 8679120 | downstream gene variant | C/A;G | snv | 0.19 | 0.810 | 1.000 | 3 | 2011 | 2015 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.810 | 0.667 | 3 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.120 | 1 | 152286602 | intron variant | A/G | snv | 0.15 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 70872975 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 152468434 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
3 | 0.882 | 0.120 | 3 | 112657461 | intergenic variant | T/C | snv | 0.15 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.800 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.160 | 5 | 110700055 | intron variant | A/G | snv | 9.3E-02 | 0.710 | 1.000 | 2 | 2011 | 2012 |