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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.200 | 19 | 11120436 | missense variant | C/A;T | snv | 2.8E-05 | 4.2E-05 | 0.880 | 1.000 | 38 | 1989 | 2018 | |||
|
6 | 0.851 | 0.080 | 19 | 11102732 | missense variant | T/C;G | snv | 2.8E-05 | 7.0E-06 | 0.860 | 1.000 | 37 | 1989 | 2017 | |||
|
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 | ||||
|
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 | ||||
|
9 | 0.790 | 0.200 | 19 | 11128085 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.810 | 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 | 11113359 | missense variant | T/C | snv | 0.810 | 1.000 | 32 | 1989 | 2017 | |||||
|
4 | 0.882 | 0.120 | 19 | 11110697 | missense variant | G/A;T | snv | 1.6E-05 | 0.810 | 1.000 | 31 | 1989 | 2017 | ||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.810 | 1.000 | 12 | 2004 | 2018 | ||||
|
5 | 0.882 | 0.080 | 19 | 11120143 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.810 | 1.000 | 9 | 1997 | 2019 | |||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.810 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 19 | 11110690 | missense variant | C/T | snv | 6.0E-05 | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 38 | 1989 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.800 | 1.000 | 34 | 1989 | 2017 | ||||
|
10 | 0.790 | 0.200 | 19 | 11106668 | missense variant | T/A | snv | 3.2E-05 | 4.2E-05 | 0.800 | 1.000 | 33 | 1989 | 2017 | |||
|
2 | 0.925 | 0.080 | 19 | 11116198 | missense variant | A/G | snv | 2.8E-05 | 7.0E-06 | 0.800 | 1.000 | 32 | 1989 | 2017 |