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 | 4 | 73455883 | 3 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 14 | 92074996 | intron variant | C/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.160 | 7 | 30924207 | 3 prime UTR variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 4 | 88726273 | 3 prime UTR variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.200 | 2 | 203937045 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.200 | 10 | 52771774 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 64500552 | missense variant | A/C | snv | 5.4E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.240 | 7 | 106288069 | upstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 2 | 88590497 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.763 | 0.200 | 22 | 37086414 | missense variant | T/C | snv | 5.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 19 | 49644795 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.120 | 5 | 1254395 | missense variant | C/T | snv | 5.2E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |