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 | 16 | 55660341 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 12 | 117230720 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 18 | 77246982 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 2 | 32116153 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 |