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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.763 | 0.160 | 17 | 7674248 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |