Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
7 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.921 | 38 | 2005 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.909 | 33 | 2005 | 2019 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.909 | 33 | 2005 | 2019 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.100 | 0.933 | 15 | 2005 | 2018 | ||||
|
78 | 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 | ||||
|
4 | 0.925 | 0.200 | 17 | 7675999 | missense variant | A/C;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2014 | ||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
2 | 17 | 7675204 | missense variant | T/A;C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2007 | 2019 | ||||
|
15 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
8 | 0.851 | 0.320 | 17 | 7675146 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
24 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 17 | 7668169 | intron variant | -/TGGCCG | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
6 | 17 | 7675109 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |