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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 1 | 247424765 | missense variant | C/T | snv | 0.710 | 1.000 | 6 | 2001 | 2016 | |||||
|
4 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 0.710 | 1.000 | 5 | 2002 | 2014 | |||||
|
4 | 0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 2002 | 2016 | |||||
|
6 | 0.807 | 0.120 | 1 | 247424507 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.080 | 1 | 247425022 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2013 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
5 | 0.851 | 0.080 | 1 | 247424227 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 11 | 105029220 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 247424344 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 247425349 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |