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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.100 | 0.882 | 17 | 2006 | 2019 | |||||
|
21 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 2006 | 2019 | ||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2003 | 2007 | |||||
|
6 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2003 | 2007 | |||||
|
4 | 0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 12 | 68839467 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.240 | 17 | 68530283 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 21 | 17565541 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 9 | 5064922 | missense variant | G/A;C;T | snv | 1.7E-05; 1.7E-05; 4.2E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | X | 17721466 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |