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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
24 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
14 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
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 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
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 | ||||
|
15 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
15 | 0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 17 | 7674197 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 17 | 7676576 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |