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 | 0.810 | 1.000 | 52 | 1990 | 2017 | |||||
|
7 | 0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv | 0.800 | 1.000 | 27 | 1990 | 2017 | |||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1990 | 2017 | |||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.810 | 1.000 | 22 | 1990 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1990 | 2017 | |||||
|
16 | 0.732 | 0.440 | 17 | 7675190 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1990 | 2014 | |||||
|
24 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1990 | 2018 | |||||
|
2 | 0.925 | 0.120 | 17 | 7673745 | missense variant | T/A;C | snv | 0.710 | 1.000 | 19 | 1990 | 2017 | |||||
|
21 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 19 | 1990 | 2014 | |||||
|
4 | 0.925 | 0.200 | 17 | 7675074 | stop gained | C/A;T | snv | 0.800 | 1.000 | 19 | 1990 | 2018 | |||||
|
2 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1989 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 7675214 | start lost | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
4 | 0.882 | 0.200 | 17 | 7674227 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 17 | 1990 | 2016 | |||||
|
19 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.800 | 1.000 | 16 | 1990 | 2017 | |||||
|
4 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 0.800 | 1.000 | 14 | 1990 | 2014 | |||||
|
20 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 1990 | 2011 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 12 | 1990 | 2014 | |||||
|
17 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 12 | 1994 | 2015 | ||||
|
16 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
3 | 0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 7675200 | missense variant | C/G | snv | 0.800 | 1.000 | 11 | 1990 | 2014 |