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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 0.850 | 1.000 | 5 | 2005 | 2017 | |||||
|
1 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 0.810 | 1.000 | 25 | 1996 | 2017 | ||||
|
1 | 0.925 | 0.120 | 11 | 2445448 | missense variant | C/T | snv | 0.810 | 1.000 | 24 | 1996 | 2017 | |||||
|
2 | 0.851 | 0.120 | 11 | 2583478 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.810 | 1.000 | 24 | 1996 | 2017 | ||||
|
1 | 0.925 | 0.120 | 11 | 2570719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 0.810 | 1.000 | 21 | 1996 | 2015 | ||||
|
1 | 0.925 | 0.120 | 11 | 2776997 | missense variant | C/A;T | snv | 0.810 | 1.000 | 20 | 1996 | 2019 | |||||
|
1 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 0.810 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 0.925 | 0.120 | 11 | 2583453 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 25 | 1996 | 2017 | |||||
|
1 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 0.800 | 1.000 | 25 | 1996 | 2017 | ||||
|
1 | 0.925 | 0.120 | 11 | 2583529 | missense variant | T/A;C | snv | 0.800 | 1.000 | 25 | 1996 | 2017 | |||||
|
1 | 0.925 | 0.120 | 11 | 2583457 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 25 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 2570715 | missense variant | G/A;C | snv | 0.800 | 1.000 | 24 | 1996 | 2017 | |||||
|
1 | 0.925 | 0.120 | 11 | 2570682 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 2583448 | missense variant | C/T | snv | 0.800 | 1.000 | 24 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 2585213 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 24 | 1996 | 2017 | ||||
|
1 | 0.882 | 0.120 | 11 | 2572963 | missense variant | G/A | snv | 4.8E-05 | 2.1E-05 | 0.800 | 1.000 | 24 | 1996 | 2017 | |||
|
1 | 0.925 | 0.120 | 11 | 2572970 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 2572942 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.800 | 1.000 | 24 | 1996 | 2017 | |||
|
1 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.800 | 1.000 | 24 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 2445117 | missense variant | C/T | snv | 1.7E-04 | 0.800 | 1.000 | 24 | 1996 | 2017 | ||||
|
1 | 0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 2572882 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 0.925 | 0.120 | 11 | 2572981 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 0.925 | 0.120 | 11 | 2776032 | missense variant | C/A;T | snv | 1.1E-05; 1.1E-05 | 0.800 | 1.000 | 20 | 1996 | 2015 | ||||
|
2 | 0.882 | 0.120 | 11 | 2778009 | missense variant | G/A | snv | 4.8E-05 | 5.6E-05 | 0.800 | 1.000 | 20 | 1996 | 2015 |