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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.100 | 0.960 | 25 | 2001 | 2018 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.955 | 22 | 2001 | 2014 | |||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.100 | 0.944 | 18 | 2008 | 2018 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.100 | 1.000 | 16 | 1996 | 2019 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.917 | 12 | 2006 | 2018 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 1.000 | 11 | 2012 | 2019 | |||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.100 | 0.900 | 10 | 2011 | 2017 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.080 | 0.875 | 8 | 2002 | 2015 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.080 | 0.875 | 8 | 2008 | 2018 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.080 | 0.875 | 8 | 2011 | 2019 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.870 | 0.875 | 8 | 2008 | 2018 | |||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.070 | 1.000 | 7 | 2007 | 2016 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
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 | 2017 | |||||||||
|
0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 |
|
0.060 | 1.000 | 6 | 2005 | 2015 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.060 | 1.000 | 6 | 2004 | 2011 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.830 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv |
|
0.050 | 0.800 | 5 | 2007 | 2018 | |||||||||
|
0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 |
|
0.050 | 0.800 | 5 | 2013 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.830 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 |
|
0.050 | 1.000 | 5 | 2005 | 2016 | ||||||||
|
0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 |
|
0.040 | 1.000 | 4 | 2011 | 2017 | |||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2001 | 2012 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.040 | 1.000 | 4 | 2008 | 2015 | |||||||
|
0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2000 | 2011 |