| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 49 | 2009 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 19 | 2011 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 16 | 2009 | 2020 | |||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.900 | 0.941 | 15 | 2009 | 2020 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 1.000 | 11 | 2005 | 2017 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.090 | 0.889 | 9 | 2012 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 0.625 | 8 | 2008 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.070 | 0.857 | 7 | 2014 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.040 | 0.500 | 4 | 2012 | 2017 | ||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.840 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2013 | 2014 | |||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
1.000 | 0.040 | 14 | 22788980 | intron variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2017 | |||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.020 | 0.500 | 2 | 2015 | 2016 | |||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2007 | 2015 | |||||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |