| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.890 | 0.889 | 9 | 2009 | 2019 | |||||||||
|
0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv |
|
0.840 | 0.750 | 4 | 2012 | 2019 | |||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.100 | 0.957 | 23 | 2011 | 2019 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.100 | 0.944 | 18 | 2007 | 2019 | |||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.100 | 0.800 | 10 | 2004 | 2018 | |||||||
|
0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv |
|
0.080 | 1.000 | 8 | 2011 | 2019 | |||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.080 | 1.000 | 8 | 2005 | 2016 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.070 | 0.857 | 7 | 2007 | 2019 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.070 | 0.857 | 7 | 2004 | 2016 | |||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.070 | 1.000 | 7 | 2013 | 2018 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.060 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.060 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.060 | 1.000 | 6 | 2010 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 |
|
0.050 | 1.000 | 5 | 2013 | 2017 | ||||||||
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
0.040 | 0.500 | 4 | 2010 | 2015 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
0.040 | 0.750 | 4 | 2009 | 2013 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.040 | 0.750 | 4 | 2005 | 2013 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.040 | 1.000 | 4 | 2017 | 2018 | ||||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.030 | 0.333 | 3 | 2010 | 2012 | |||||||||
|
0.827 | 0.280 | 11 | 92968430 | upstream gene variant | T/C | snv | 0.49 |
|
0.030 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.030 | 0.333 | 3 | 2004 | 2007 | |||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.030 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | |||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 |
|
0.030 | 1.000 | 3 | 2011 | 2017 |