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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.360 | 5 | 111071044 | 5 prime UTR variant | C/A;T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.320 | 6 | 32658534 | upstream gene variant | T/C | snv | 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.280 | 10 | 6052734 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |