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 | 30 | 1990 | 2017 | |||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 1990 | 2017 | ||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 19 | 2001 | 2017 | ||||
|
2 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1989 | 2015 | |||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 16 | 1994 | 2016 | ||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 1992 | 2017 | |||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.700 | 1.000 | 14 | 1997 | 2015 | |||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.700 | 1.000 | 13 | 1998 | 2011 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 1993 | 2016 | ||||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2016 | ||||
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2016 | ||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 1992 | 2017 | ||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1996 | 2015 | ||||
|
4 | 0.925 | 0.200 | 17 | 7675074 | stop gained | C/A;T | snv | 0.700 | 1.000 | 12 | 1994 | 2013 | |||||
|
21 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 1991 | 2018 | |||||
|
24 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 11 | 1993 | 2015 | |||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 10 | 1994 | 2016 | |||||
|
7 | 0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2017 | |||||
|
24 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 10 | 2003 | 2017 | |||||
|
20 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 10 | 2000 | 2014 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 1995 | 2017 | |||||
|
4 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 0.700 | 1.000 | 9 | 1994 | 2014 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 9 | 2000 | 2017 | ||||
|
6 | 0.851 | 0.280 | 17 | 7674945 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2001 | 2017 | ||||
|
20 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 1993 | 2011 |