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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 1998 | 2015 | ||||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 1.000 | 5 | 1998 | 2015 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.120 | 3 | 122261589 | frameshift variant | G/- | del | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 3 | 122284257 | missense variant | G/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 11 | 13492716 | intron variant | C/A;T | snv | 4.0E-06; 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.280 | 3 | 122283992 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 |