| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.800 | 1.000 | 16 | 2010 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.833 | 12 | 2005 | 2014 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.100 | 1.000 | 11 | 2007 | 2019 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.900 | 10 | 2009 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.090 | 0.778 | 9 | 2011 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.080 | 0.875 | 8 | 2011 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.070 | 1.000 | 7 | 2008 | 2015 | |||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.060 | 0.667 | 6 | 2002 | 2016 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.060 | 0.833 | 6 | 2015 | 2018 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.750 | 4 | 2008 | 2017 | ||||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.040 | 0.750 | 4 | 2014 | 2018 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.882 | 0.080 | 6 | 41749967 | intron variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 |