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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv | 0.810 | 1.000 | 31 | 1997 | 2017 | |||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.820 | 1.000 | 25 | 1997 | 2015 | |||||
|
7 | 0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv | 0.800 | 1.000 | 23 | 1997 | 2015 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv | 0.800 | 1.000 | 23 | 1997 | 2015 | |||||
|
8 | 0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv | 0.800 | 1.000 | 23 | 1997 | 2015 | |||||
|
7 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 0.800 | 1.000 | 23 | 1997 | 2015 | |||||
|
8 | 0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 23 | 1997 | 2015 | |||||
|
16 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 0.710 | 1.000 | 21 | 1997 | 2008 | ||||
|
13 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1997 | 2008 | |||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 20 | 1997 | 2008 | |||||
|
2 | 0.925 | 0.080 | 10 | 87933094 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.080 | 10 | 87961113 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.080 | 10 | 87961118 | missense variant | G/A;C | snv | 0.700 | 1.000 | 20 | 1997 | 2008 | |||||
|
4 | 0.851 | 0.200 | 10 | 87933073 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1997 | 2008 | |||||
|
5 | 0.851 | 0.280 | 10 | 87933162 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.080 | 10 | 87952133 | missense variant | A/C;G | snv | 0.700 | 1.000 | 11 | 1997 | 2013 | |||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.710 | 1.000 | 8 | 1997 | 2013 | ||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.730 | 1.000 | 8 | 1997 | 2015 | |||||
|
3 | 0.925 | 0.120 | 10 | 87933126 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 1997 | 2012 | |||||
|
8 | 0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv | 0.710 | 0.857 | 7 | 2000 | 2013 | |||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2015 | ||||
|
2 | 1.000 | 0.080 | 10 | 87933082 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2017 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.710 | 1.000 | 5 | 1997 | 2016 | |||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1975 | 2014 | ||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2007 | 2017 |