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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.080 | 1.000 | 8 | 2007 | 2016 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.750 | 1.000 | 5 | 2011 | 2018 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 4 | 2011 | 2020 | ||||
|
3 | 0.882 | 0.080 | 17 | 7673791 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2003 | 2013 | |||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
8 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.720 | 1.000 | 2 | 2012 | 2015 | ||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 17 | 7676194 | missense variant | C/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2004 | 2008 | |||||
|
3 | 0.882 | 0.120 | 17 | 7676181 | missense variant | G/A;C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
5 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2011 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 17 | 7674278 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 17 | 7673578 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 7673557 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.200 | 17 | 7673608 | missense variant | G/A;C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 17 | 7675054 | missense variant | A/G;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |