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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 80112072 | missense variant | G/A | snv | 1.8E-02 | 7.1E-03 | 0.030 | 1.000 | 3 | 2008 | 2019 | |||
|
3 | 0.882 | 0.120 | 17 | 80111023 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 1994 | 2014 | |||
|
3 | 0.882 | 0.160 | 17 | 80113242 | missense variant | G/A;C | snv | 5.6E-02; 4.4E-06 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
2 | 0.925 | 0.120 | 17 | 80118668 | stop gained | G/T | snv | 2.0E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2019 | |||
|
3 | 0.882 | 0.120 | 17 | 80107894 | missense variant | T/A;C | snv | 4.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 1991 | 1991 | |||
|
2 | 0.925 | 0.120 | 7 | 142052790 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 17 | 80117016 | stop gained | G/A;C | snv | 8.0E-06; 3.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.120 | 17 | 80112922 | missense variant | C/A;T | snv | 1.2E-04; 8.2E-06 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||
|
2 | 0.925 | 0.120 | 17 | 80105866 | missense variant | G/A | snv | 7.7E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 7 | 142021035 | synonymous variant | T/C | snv | 7.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 3 | 165043125 | missense variant | G/C | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.120 | 17 | 80105096 | synonymous variant | C/T | snv | 5.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 17 | 80112645 | stop gained | C/G;T | snv | 4.1E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 17 | 80105872 | missense variant | C/T | snv | 2.1E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 17 | 80112928 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
3 | 0.882 | 0.120 | 7 | 142034817 | missense variant | G/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 |