| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 101127788 | missense variant | C/T | snv | 6.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 102411788 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
10 | 102422814 | missense variant | G/A | snv | 1.3E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 7 | 116740993 | missense variant | A/G | snv | 6.0E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 8 | 116861572 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 8 | 116867092 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |