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 | 14 | 78714883 | synonymous variant | C/G;T | snv | 8.0E-06; 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.020 | 1.000 | 2 | 2007 | 2015 | |||
|
1 | 12 | 71939790 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 13 | 21619823 | intergenic variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 11 | 46539130 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 10 | 35127641 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.851 | 0.200 | 6 | 77461407 | downstream gene variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.790 | 0.080 | 12 | 72018714 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 7 | 136946956 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 12 | 79353599 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 12 | 79353602 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 12 | 79448953 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 12 | 71930054 | downstream gene variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 |