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 | 121451045 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.080 | 11 | 27693337 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 6 | 41909351 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.080 | 6 | 41909351 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 10 | 60325579 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 11 | 121631046 | 3 prime UTR variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 21 | 25982462 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 3 | 178539774 | intron variant | G/A | snv | 0.23 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 2 | 240786339 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
3 | 0.882 | 0.160 | 13 | 100157297 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.160 | 11 | 27724217 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 17 | 42688979 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 40078573 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 1 | 40092499 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 1 | 40078579 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.200 | 21 | 44250887 | missense variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |