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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del |
|
0.060 | 1.000 | 6 | 2005 | 2019 | |||||||||
|
0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 |
|
0.060 | 1.000 | 6 | 2005 | 2019 | ||||||||
|
0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv |
|
0.040 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2005 | 2018 | |||||||||
|
0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 |
|
0.030 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
0.882 | 0.040 | 13 | 20142862 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.827 | 0.040 | 3 | 186539566 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.807 | 0.240 | 11 | 111908832 | missense variant | C/T | snv | 9.1E-04 | 8.7E-04 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | |||||||
|
0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.040 | 21 | 43170619 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2006 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 16113897 | regulatory region variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.851 | 0.160 | 14 | 103686015 | 3 prime UTR variant | C/G | snv | 0.61 |
|
0.020 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.040 | 3 | 133450432 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.120 | 15 | 90811275 | synonymous variant | C/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 3 | 25129806 | intron variant | T/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.200 | 13 | 20143233 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 1 | 16115233 | regulatory region variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.160 | 8 | 31119144 | intron variant | T/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 544073 | start lost | T/C | snv | 2.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 20 | 33850969 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 |