Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 160 | 2006 | 2020 | |||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 118 | 1997 | 2018 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.893 | 103 | 1997 | 2018 | |||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.900 | 0.908 | 60 | 2006 | 2020 | |||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 60 | 1998 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 57 | 2007 | 2019 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.900 | 0.961 | 45 | 2007 | 2019 | ||||||||
|
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 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.100 | 0.882 | 34 | 1995 | 2017 | |||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.100 | 0.879 | 33 | 2001 | 2020 | |||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 32 | 2007 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.938 | 32 | 1999 | 2019 | |||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 32 | 2007 | 2018 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.900 | 0.939 | 27 | 2009 | 2020 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.900 | 0.914 | 25 | 2007 | 2020 | ||||||||
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
0.900 | 1.000 | 24 | 2008 | 2019 | ||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.900 | 0.964 | 23 | 2007 | 2019 | ||||||||
|
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 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
0.900 | 0.966 | 21 | 2007 | 2019 | |||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.100 | 0.850 | 20 | 1999 | 2017 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.100 | 0.900 | 20 | 2002 | 2018 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.944 | 18 | 2000 | 2019 | ||||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.900 | 0.889 | 17 | 2008 | 2019 | |||||||||
|
0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 |
|
0.900 | 1.000 | 17 | 2006 | 2020 | ||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.900 | 0.963 | 16 | 2007 | 2017 |