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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 19 | 1992 | 2016 | |||||
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1992 | 2016 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 14 | 1992 | 2016 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2014 | ||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 14 | 1992 | 2015 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 1992 | 2013 | ||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2000 | 2016 | ||||
|
24 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2002 | 2018 | ||||
|
2 | 1.000 | 0.120 | 17 | 7674876 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2003 | 2015 | ||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 2003 | 2016 | ||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 8 | 1995 | 2011 | |||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1997 | 2011 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 5 | 2000 | 2013 | ||||
|
2 | 0.925 | 0.200 | 17 | 7676102 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 5 | 1997 | 2013 | |||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1990 | 2011 | ||||
|
24 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2003 | 2016 | |||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 0.925 | 0.120 | 17 | 7675113 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 17 | 7676387 | missense variant | C/A;T | snv | 2.5E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |