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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.900 | 0.953 | 190 | 2006 | 2020 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.893 | 103 | 1997 | 2018 | |||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 1.000 | 0.973 | 75 | 2007 | 2019 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.900 | 0.908 | 65 | 2006 | 2020 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.900 | 0.906 | 64 | 1998 | 2019 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.100 | 0.841 | 44 | 1994 | 2019 | ||||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.900 | 0.966 | 29 | 2007 | 2019 | |||||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.900 | 0.958 | 24 | 2007 | 2019 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 0.762 | 21 | 1997 | 2018 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.100 | 0.850 | 20 | 1999 | 2017 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.900 | 20 | 2002 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.944 | 18 | 2000 | 2019 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.900 | 0.889 | 18 | 2008 | 2019 | |||||
|
8 | 0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv | 0.800 | 0.941 | 17 | 2007 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.100 | 1.000 | 14 | 2009 | 2019 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.100 | 0.923 | 13 | 2009 | 2019 | |||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.800 | 0.917 | 12 | 2006 | 2020 | |||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.100 | 1.000 | 12 | 2000 | 2017 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.100 | 1.000 | 11 | 2000 | 2017 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.100 | 0.800 | 10 | 2009 | 2019 | ||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.870 | 0.900 | 10 | 2006 | 2020 | |||||
|
6 | 0.851 | 0.080 | 11 | 17396930 | missense variant | C/A;T | snv | 0.64; 8.0E-06 | 0.790 | 0.900 | 10 | 1997 | 2018 | ||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.780 | 1.000 | 9 | 2006 | 2018 | ||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.090 | 1.000 | 9 | 2011 | 2015 |