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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 17 | 7675142 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 17 | 7675082 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 17 | 7673766 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 0.080 | 17 | 44911429 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.827 | 0.080 | 16 | 1212024 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | 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 | |||||
|
17 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 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 | |||||
|
20 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |