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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 35 | 1990 | 2017 | |||||
|
4 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.810 | 1.000 | 26 | 1990 | 2017 | ||||
|
24 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.820 | 1.000 | 25 | 1990 | 2018 | ||||
|
37 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.820 | 1.000 | 24 | 1990 | 2015 | ||||
|
39 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.820 | 1.000 | 20 | 1990 | 2018 | ||||
|
25 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 19 | 1990 | 2015 | ||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1989 | 2017 | |||||
|
16 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 18 | 1990 | 2017 | ||||
|
20 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.800 | 1.000 | 17 | 1994 | 2016 | ||||
|
2 | 0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv | 0.800 | 1.000 | 16 | 1990 | 2017 | |||||
|
6 | 0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 16 | 1990 | 2017 | ||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 15 | 1990 | 2016 | ||||
|
25 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.810 | 1.000 | 15 | 1990 | 2015 | ||||
|
7 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.900 | 0.977 | 14 | 1990 | 2020 | ||||
|
42 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 1991 | 2015 | ||||
|
29 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 1988 | 2014 | ||||
|
20 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 12 | 1990 | 2014 | ||||
|
3 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 0.700 | 1.000 | 11 | 1997 | 2014 | ||||
|
2 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 1992 | 2016 | |||||
|
3 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.700 | 1.000 | 11 | 2006 | 2016 | |||||
|
26 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 10 | 1994 | 2012 | |||||
|
20 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 10 | 1999 | 2015 | |||||
|
3 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.810 | 1.000 | 10 | 1990 | 2014 | |||||
|
23 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 10 | 1990 | 2017 | |||||
|
15 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2003 | 2016 |