| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.921 | 38 | 2005 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.909 | 33 | 2005 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.909 | 33 | 2005 | 2019 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.100 | 0.933 | 15 | 2005 | 2018 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.100 | 1.000 | 12 | 2005 | 2019 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 2013 | 2019 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.040 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 0.667 | 3 | 2007 | 2019 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2017 | 2019 | |||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.925 | 0.200 | 17 | 7675999 | missense variant | A/C;T | snv | 8.0E-06 |
|
0.020 | 0.500 | 2 | 2006 | 2014 | ||||||||
|
0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
17 | 7668169 | intron variant | -/TGGCCG | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |