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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.840 | 1.000 | 35 | 1989 | 2017 | ||||
|
6 | 0.851 | 0.080 | 19 | 11116883 | stop gained | G/A;C | snv | 8.0E-06 | 0.830 | 1.000 | 34 | 1989 | 2018 | ||||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.800 | 1.000 | 34 | 1989 | 2017 | ||||
|
7 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 0.820 | 1.000 | 33 | 1989 | 2017 | ||||
|
8 | 0.807 | 0.200 | 19 | 11105568 | missense variant | A/G;T | snv | 5.2E-05 | 0.820 | 1.000 | 33 | 1989 | 2017 | ||||
|
6 | 0.851 | 0.080 | 19 | 11116882 | missense variant | T/C;G | snv | 0.820 | 1.000 | 33 | 1989 | 2017 | |||||
|
6 | 0.851 | 0.080 | 19 | 11105587 | missense variant | C/A;G;T | snv | 8.1E-06; 8.1E-05 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
5 | 0.882 | 0.080 | 19 | 11105429 | missense variant | G/A;T | snv | 8.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
5 | 0.851 | 0.120 | 19 | 11105408 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11120382 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
5 | 0.925 | 0.080 | 19 | 11116197 | missense variant | A/C;G | snv | 8.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11111550 | missense variant | A/C;G | snv | 2.4E-05 | 0.710 | 1.000 | 32 | 1989 | 2017 | ||||
|
9 | 0.790 | 0.200 | 19 | 11128085 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11102756 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 32 | 1989 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 11105577 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 32 | 1989 | 2017 | |||||
|
3 | 0.925 | 0.080 | 19 | 11110664 | missense variant | G/A;T | snv | 0.810 | 1.000 | 32 | 1989 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 11110765 | missense variant | T/A;C | snv | 0.710 | 1.000 | 32 | 1989 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113359 | missense variant | T/C | snv | 0.810 | 1.000 | 32 | 1989 | 2017 | |||||
|
7 | 0.807 | 0.200 | 19 | 11107491 | stop gained | C/A;G;T | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113388 | missense variant | G/C;T | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 11105457 | missense variant | G/A;C | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
4 | 0.851 | 0.080 | 19 | 11106652 | missense variant | G/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11100292 | missense variant | G/A;C | snv | 0.800 | 1.000 | 31 | 1989 | 2017 |