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 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.900 | 0.902 | 122 | 1997 | 2018 | |||
|
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 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.900 | 0.961 | 51 | 2007 | 2019 | ||||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 1.000 | 0.977 | 44 | 2007 | 2018 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.900 | 0.955 | 44 | 2007 | 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 | ||||
|
10 | 0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 | 0.900 | 0.914 | 35 | 2007 | 2020 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.100 | 0.882 | 34 | 1995 | 2017 | |||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.900 | 0.939 | 33 | 2009 | 2020 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.100 | 0.879 | 33 | 2001 | 2020 | |||
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.900 | 1.000 | 32 | 2008 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.938 | 32 | 1999 | 2019 | |||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.900 | 0.966 | 29 | 2007 | 2019 | |||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 0.964 | 28 | 2007 | 2019 | ||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.900 | 0.963 | 27 | 2007 | 2017 | ||||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.900 | 0.958 | 24 | 2007 | 2019 | |||||
|
6 | 0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 | 0.900 | 1.000 | 23 | 2006 | 2020 | ||||
|
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 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.900 | 0.889 | 18 | 2008 | 2019 |