| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 7 | 55177954 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 20 | 63742354 | missense variant | G/T | snv | 0.71 | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.925 | 0.040 | 2 | 47475148 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 6 | 26196856 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 47799866 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.080 | 1 | 3732940 | missense variant | G/A | snv | 8.5E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.040 | 6 | 30889239 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 6 | 27810468 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2016 | |||||||||
|
0.925 | 0.040 | 6 | 26020589 | missense variant | G/A;C | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 9 | 21974725 | missense variant | C/T | snv | 8.2E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 7 | 512435 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 |