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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.708 | 0.280 | 5 | 56737113 | regulatory region variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 21 | 33224308 | intergenic variant | T/C | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 6 | 27174125 | regulatory region variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 27342000 | intergenic variant | G/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
20 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 65605243 | intron variant | C/A | snv | 0.99 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 13 | 83706928 | intergenic variant | A/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.080 | 15 | 86428401 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 6 | 31657087 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 4 | 78826060 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 7 | 140781597 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.720 | 1.000 | 3 | 2015 | 2019 | |||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 |