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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.730 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 4 | 1997 | 2018 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 28 | 2006 | 2020 | |||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.790 | 1.000 | 1 | 2010 | 2019 | |||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.900 | 0.961 | 2 | 2007 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.720 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.770 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.900 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2019 | |||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 4 | 1998 | 2019 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.900 | 0.964 | 4 | 2007 | 2019 | ||||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.810 | 1.000 | 1 | 2007 | 2012 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 13 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 10 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 9 | 2007 | 2018 | ||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.710 | 1.000 | 1 | 2018 | 2019 | |||||||
|
0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 |
|
0.730 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 |
|
0.890 | 0.929 | 2 | 2008 | 2017 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.810 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 |
|
0.900 | 0.923 | 1 | 2009 | 2018 |