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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 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 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||
|
13 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.040 | 17 | 7674963 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.732 | 0.440 | 17 | 7673787 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.280 | 17 | 7674199 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.790 | 0.160 | 17 | 7675180 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.240 | 17 | 7674253 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.662 | 0.480 | 17 | 7673779 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 |