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 | 0.780 | 1.000 | 26 | 1989 | 2016 | |||
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.760 | 1.000 | 22 | 1989 | 2016 | ||||
|
6 | 0.851 | 0.080 | 19 | 11102732 | missense variant | T/C;G | snv | 2.8E-05 | 7.0E-06 | 0.750 | 1.000 | 12 | 1990 | 2006 | |||
|
8 | 0.807 | 0.200 | 19 | 11105568 | missense variant | A/G;T | snv | 5.2E-05 | 0.720 | 1.000 | 25 | 1989 | 2015 | ||||
|
6 | 0.851 | 0.160 | 19 | 11120425 | stop gained | C/A;G | snv | 8.0E-06 | 0.720 | 1.000 | 16 | 1964 | 2015 | ||||
|
4 | 0.925 | 0.080 | 19 | 11107432 | missense variant | C/A;T | snv | 2.8E-05; 3.7E-04 | 0.720 | 1.000 | 13 | 1992 | 2016 | ||||
|
6 | 0.851 | 0.080 | 19 | 11116882 | missense variant | T/C;G | snv | 0.720 | 1.000 | 12 | 1996 | 2012 | |||||
|
4 | 0.851 | 0.120 | 19 | 11105528 | stop gained | G/A;T | snv | 0.720 | 1.000 | 11 | 1989 | 2012 | |||||
|
7 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 0.720 | 1.000 | 10 | 1994 | 2013 | ||||
|
2 | 0.925 | 0.080 | 19 | 11105423 | missense variant | T/C;G | snv | 0.720 | 1.000 | 9 | 1992 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113326 | missense variant | T/C | snv | 0.720 | 1.000 | 3 | 2000 | 2010 | |||||
|
3 | 0.882 | 0.120 | 19 | 11113665 | missense variant | A/C;G | snv | 0.720 | 0.667 | 3 | 1998 | 2010 | |||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.710 | 1.000 | 27 | 1992 | 2016 | |||
|
9 | 0.790 | 0.200 | 19 | 11128085 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 21 | 1995 | 2013 | ||||
|
6 | 0.851 | 0.080 | 19 | 11102774 | stop gained | G/A;T | snv | 1.6E-05 | 0.710 | 1.000 | 19 | 1992 | 2015 | ||||
|
3 | 0.925 | 0.080 | 19 | 11105567 | missense variant | G/A;T | snv | 0.710 | 1.000 | 17 | 1991 | 2015 | |||||
|
6 | 0.851 | 0.080 | 19 | 11105587 | missense variant | C/A;G;T | snv | 8.1E-06; 8.1E-05 | 0.710 | 1.000 | 16 | 1989 | 2016 | ||||
|
5 | 0.851 | 0.120 | 19 | 11105408 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 16 | 1993 | 2016 | ||||
|
5 | 0.882 | 0.080 | 19 | 11116153 | missense variant | G/A;T | snv | 2.4E-05 | 0.710 | 1.000 | 16 | 1990 | 2015 | ||||
|
4 | 0.925 | 0.080 | 19 | 11120382 | missense variant | G/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1990 | 2016 | ||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.710 | 1.000 | 12 | 1990 | 2016 | ||||
|
5 | 0.882 | 0.080 | 19 | 11105429 | missense variant | G/A;T | snv | 8.0E-06 | 0.710 | 1.000 | 8 | 1987 | 2015 | ||||
|
4 | 0.882 | 0.120 | 19 | 11110697 | missense variant | G/A;T | snv | 1.6E-05 | 0.710 | 1.000 | 7 | 1998 | 2012 | ||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.710 | 1.000 | 7 | 1998 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 11105577 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 7 | 1992 | 2007 |