| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2004 | 2018 | |||||||||
|
0.851 | 0.120 | 22 | 38984136 | missense variant | C/A | snv | 4.1E-06 |
|
0.020 | 0.500 | 2 | 2010 | 2015 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 102397954 | intron variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.23 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.200 | 2 | 203936863 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 7 | 55170434 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 3 | 105658671 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.200 | 8 | 89955461 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 12 | 12241640 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 12 | 65128867 | intergenic variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 2 | 29222407 | missense variant | G/A;C | snv | 3.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |