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 | 152468434 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 5 | 132655393 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 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 | ||||
|
9 | 0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.120 | 6 | 32081646 | missense variant | C/G;T | snv | 5.6E-05; 7.7E-02; 3.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 19 | 54783499 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 9 | 6256028 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 152350656 | stop gained | G/A;T | snv | 0.24 | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 3 | 112657461 | intergenic variant | T/C | snv | 0.15 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | ||||
|
2 | 0.925 | 0.200 | 4 | 122089432 | upstream gene variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 4 | 184435757 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.807 | 0.240 | 6 | 32098988 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 112918756 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 5 | 110700055 | intron variant | A/G | snv | 9.3E-02 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.160 | 5 | 110713253 | intron variant | G/A | snv | 9.3E-02 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
5 | 0.882 | 0.120 | 17 | 49334880 | intron variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 177009491 | downstream gene variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | ||||
|
2 | 0.925 | 0.120 | 5 | 148114596 | intron variant | A/C | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 152310672 | stop gained | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |